Prof. R.J.A. Wanders PhD publications

2021

• Mereis Michelle, Wanders Ronald J. A., Schoonen Maryke, Dercksen Marli, Smuts Izelle, van der Westhuizen Francois H. Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies international journal of biochemistry & cell biology 2021;132 [PubMed]
• Verkerk Arie O., Knottnerus Suzan J. G., Portero Vincent, Bleeker Jeannette C., Ferdinandusse Sacha, Guan Kaomei, IJlst Lodewijk, Visser Gepke, Wanders Ronald J. A., Wijburg Frits A., Bezzina Connie R., Mengarelli Isabella, Houtkooper Riekelt H. Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation Frontiers in pharmacology 2021;11
• Chornyi Serhii, IJlst Lodewijk, van Roermund Carlo W. T., Wanders Ronald J. A., Waterham Hans R. Peroxisomal Metabolite and Cofactor Transport in Humans Frontiers in cell and developmental biology 2021;8 [PubMed]

2020

• Ferdinandusse Sacha, McWalter Kirsty, te Brinke Heleen, IJlst Lodewijk, Mooijer Petra M., Ruiter Jos P. N., van Lint Alida E. M., Pras-Raves Mia, Wever Eric, Millan Francisca, Guillen Sacoto Maria J., Begtrup Amber, Tarnopolsky Mark, Brady Lauren, Ladda Roger L., Sell Susan L., Nowak Catherine B., Douglas Jessica, Tian Cuixia, Ulm Elizabeth, Perlman Seth, Drack Arlene V., Chong Karen, Martin Nicole, Brault Jennifer, Brokamp Elly, Toro Camilo, Gahl William A., Macnamara Ellen F., Wolfe Lynne, Alejandro Mercedes E., Azamian Mahshid S., Bacino Carlos A., Balasubramanyam Ashok, Burrage Lindsay C., Chao Hsiao-Tuan, Clark Gary D., Craigen William J., Dai Hongzheng, Dhar Shweta U., Emrick Lisa T., Goldman Alica M., Hanchard Neil A., Jamal Fariha, Karaviti Lefkothea, Zwijnenburg Petra J. G., van Kampen Antoine H. C., Wanders Ronald J. A., Waterham Hans R., Vaz Frédéric M. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids Genetics in medicine 2020 [PubMed]
• Václavík Jan, Mádrová Lucie, Kouřil Štěpán, de Sousa Julie, Brumarová Radana, Janečková Hana, Jáčová Jaroslava, Friedecký David, Knapková M. ria, Kluijtmans Leo A. J., Grünert Sarah C., Vaz Frédéric M., Janzen Nils, Wanders Ronald J. A., Wevers Ron A., Adam Tomáš A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency JIMD reports 2020;54 (1):79-86 [PubMed]
• Knottnerus Suzan J. G., Mengarelli Isabella, Wüst Rob C. I., Baartscheer Antonius, Bleeker Jeannette C., Coronel Ruben, Ferdinandusse Sacha, Guan Kaomei, Ijlst Lodewijk, Li Wener, Luo Xiaojing, Portero Vincent M., Ulbricht Ying, Visser Gepke, Wanders Ronald J. A., Wijburg Frits A., Verkerk Arie O., Houtkooper Riekelt H., Bezzina Connie R. Electrophysiological abnormalities in VLCAD deficient hiPSC-cardiomyocytes can be improved by lowering accumulation of fatty acid oxidation intermediates International journal of molecular sciences 2020;21 (7) [PubMed]
• Knottnerus Suzan J. G., van Harskamp Dewi, Schierbeek Henk, Bleeker Jeannette C., Crefcoeur Loek L., Ferdinandusse Sacha, van Goudoever Johannes B., Houtkooper Riekelt H., IJlst Lodewijk, Langeveld Mirjam, Wanders Ronald J. A., Vaz Frédéric M., Wijburg Frits A., Visser Gepke Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer Clinical nutrition (Edinburgh, Scotland) 2020 [PubMed]
• Wanders Ronald J. A., Vaz Frédéric M., Waterham Hans R., Ferdinandusse Sacha Fatty Acid Oxidation in Peroxisomes: Enzymology, Metabolic Crosstalk with Other Organelles and Peroxisomal Disorders Advances in experimental medicine and biology 2020;1299:55-70 [PubMed]
• Wegrzyn Agnieszka B., Herzog Katharina, Gerding Albert, Kwiatkowski Marcel, Wolters Justina C., Dolga Amalia M., van Lint Alida E. M., Wanders Ronald J. A., Waterham Hans R., Bakker Barbara M. Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease FEBS journal 2020;287 (23):5096-5113 [PubMed]
• Lagerwaard Bart, Pougovkina Olga, Bekebrede Anna F., te Brinke Heleen, Wanders Ronald J. A., Nieuwenhuizen Arie G., Keijer Jaap, de Boer Vincent C. J. Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubes Journal of inherited metabolic disease 2020 [PubMed]
• Houten Sander M., Wanders Ronald J. A., Ranea-Robles Pablo Metabolic interactions between peroxisomes and mitochondria with a special focus on acylcarnitine metabolism BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2020;1866 (5) [PubMed]
• Lipiński Patryk, Stawiński Piotr, Rydzanicz Małgorzata, Wypchło Maria, Płoski Rafał, Stradomska Teresa Joanna, Jurkiewicz Elżbieta, Ferdinandusse Sacha, Wanders Ronald J. A., Vaz Frederic M., Tylki-Szymańska Anna Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants Journal of applied genetics 2020;61 (1):87-91 [PubMed]
• Wanders Ronald J. A., Visser Gepke, Ferdinandusse Sacha, Vaz Frédéric M., Houtkooper Riekelt H. Mitochondrial fatty acid oxidation disorders: Laboratory diagnosis, pathogenesis, and the complicated route to treatment Journal of Lipid and Atherosclerosis 2020;9 (3):313-333 [PubMed]
• Crefcoeur Loek L., de Sain-van der Velden Monique G. M., Ferdinandusse Sacha, Langeveld Mirjam, Maase Rose, Vaz Frédéric M., Visser Gepke, Wanders Ronald J. A., Wijburg Frits A., Verschoof-Puite Rendelien K., Schielen Peter C. J. I. Neonatal carnitine concentrations in relation to gestational age and weight JIMD reports 2020;56 (1):95-104 [PubMed]
• Bleeker Jeannette C., Visser Gepke, Clarke Kieran, Ferdinandusse Sacha, de Haan Ferdinand H., Houtkooper Riekelt H., IJlst Lodewijk, Kok Irene L., Langeveld Mirjam, van der Pol W. Ludo, de Sain-van der Velden Monique G. M., Sibeijn-Kuiper Anita, Takken Tim, Wanders Ronald J. A., van Weeghel Michel, Wijburg Frits A., van der Woude Luc H., Wüst Rob C. I., Cox Pete J., Jeneson Jeroen A. L. Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency Journal of inherited metabolic disease 2020;43 (4):787-799 [PubMed]
• Knottnerus Suzan J. G., Bleeker Jeannette C., Ferdinandusse Sacha, Houtkooper Riekelt H., Langeveld Mirjam, Nederveen Aart J., Strijkers Gustav J., Visser Gepke, Wanders Ronald J. A., Wijburg Frits A., Boekholdt S. Matthijs, Bakermans Adrianus J. Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study Journal of inherited metabolic disease 2020;43 (5):969-980 [PubMed]
• Fukao Toshiyuki, Yamaguchi Seiji, Suzuki Yasuyuki, Shimozawa Nobuyuki, Orii Tadao, Wanders Ronald J. A. Takashi Hashimoto, Professor Emeritus at the Department of Biochemistry, Shinshu University Graduate School of Medicine, Matsumoto, Japan (b 14 March 1933; q 1962 at the University of Tokyo; d 18 April 2019; Japan) Journal of inherited metabolic disease 2020;43 (2):377-378 [PubMed]
• van Roermund Carlo W. T., IJlst Lodewijk, Baker Alison, Wanders Ronald J. A., Theodoulou Freddie L., Waterham Hans R. The Saccharomyces cerevisiae ABC subfamily D transporter Pxa1/Pxa2p co-imports CoASH into the peroxisome FEBS letters 2020 [PubMed]
• Mitchell Grant A., Sasai Hideo, Bastin Jean, Sass J. rn Oliver, Wanders Ronald Ja, Yamaguchi Seiji Toshiyuki Fukao Journal of inherited metabolic disease 2020;43 (6):1392 [PubMed]

2019

• Ferdinandusse Sacha, te Brinke Heleen, Ruiter Jos P. N., Haasjes Janet, Oostheim Wendy, van Lenthe Henk, IJlst Lodewijk, Ebberink Merel S., Wanders Ronald J. A., Vaz Frédéric M., Waterham Hans R. A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency Human mutation 2019;40 (10):1899-1904 [PubMed]
• Herzog Katharina, Ijlst Lodewijk, van Cruchten Arno G., van Roermund Carlo W. T., Kulik Wim, Wanders Ronald J. A., Waterham Hans R. An UPLC-MS/MS assay to measure glutathione as marker for oxidative stress in cultured cells Metabolites 2019;9 (3) [PubMed]
• van Karnebeek Clara D. M., Ramos R. ben J., Wen Xiao-Yan, Tarailo-Graovac Maja, Gleeson Joseph G., Skrypnyk Cristina, Brand-Arzamendi Koroboshka, Karbassi Farhad, Issa Mahmoud Y., van der Lee Robin, Drögemöller Britt I., Koster Janet, Rousseau Justine, Campeau Philippe M., Wang Youdong, Cao Feng, Li Meng, Ruiter Jos, Ciapaite Jolita, Kluijtmans Leo A. J., Willemsen Michel A. A. P., Jans Judith J., Ross Colin J., Wintjes Liesbeth T., Rodenburg Richard J., Huigen Marleen C. D. G., Jia Zhengping, Waterham Hans R., Wasserman Wyeth W., Wanders Ronald J. A., Verhoeven-Duif Nanda M., Zaki Maha S., Wevers Ron A. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy American journal of human genetics 2019;105 (3):534-548 [PubMed]
• Cade William Todd, Bohnert Kathryn L., Peterson Linda R., Patterson Bruce W., Bittel Adam J., Okunade Adewole L., de las Fuentes Lisa, Steger-May Karen, Bashir Adil, Schweitzer George G., Chacko Shaji K., Wanders Ronald J., Pacak Christina A., Byrne Barry J., Reeds Dominic N. Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome Journal of inherited metabolic disease 2019;42 (3):480-493 [PubMed]
• Raja Vaishnavi, Salsaa Michael, Joshi Amit S., Li Yiran, van Roermund Carlo W. T., Saadat Nadia, Lazcano Pablo, Schmidtke Michael, Hüttemann Maik, Gupta Smiti V., Wanders Ronald J. A., Greenberg Miriam L. Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle function BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2019;1864 (5):654-661 [PubMed]
• Verly I. R. N., Leen R., Meinsma J. R., Hooijer G. K. J., Savci-Heijink C. D., van Nes J., Broekmans M., Wanders R. J. A., van Kuilenburg A. B. P., Tytgat G. A. M. Catecholamine excretion profiles identify clinical subgroups of neuroblastoma patients European journal of cancer (Oxford, England 2019;111:21-29 [PubMed]
• Verly Iedan R. N. Catecholamine metabolites in neuroblastoma patients 2019. 192p. ISBN 9789463755627. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wanders R. J. A. , Pieters R.; Co-supervisors: van Kuilenburg A. B. P. , Tytgat G. A. M.)
• Raja Vaishnavi, Salsaa Michael, Joshi Amit S., Li Yiran, van Roermund Carlo W. T., Saadat Nadia, Lazcano Pablo, Schmidtke Michael, Hüttemann Maik, Gupta Smiti V., Wanders Ronald J. A., Greenberg Miriam L. Corrigendum to "Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle function" [Biochim. Biophys. Acta, Mol. Cell Biol. Lipids 1864/5(2019) 654-661] BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2019;1864 (8):1183 [PubMed]
• van Kuilenburg A. B. P., Tarailo-Graovac M., Richmond P. A., Drögemöller B. I., Pouladi M. A., Leen R., Brand-Arzamendi K., Dobritzsch D., Dolzhenko E., Eberle M. A., Hayward B., Jones M. J., Karbassi F., Kobor M. S., Koster J., Kumari D., Li M., MacIsaac J., McDonald C., Meijer J., Nguyen C., Rajan-Babu I. S., Scherer S. W., Sim B., Trost B., Tseng L. A., Turkenburg M., van Vugt J. J. F. A., Veldink J. H., Walia J. S., Wang Y., van Weeghel M., Wright G. E. B., Xu X., Yuen R. K. C., Zhang J., Ross C. J., Wasserman W. W., Geraghty M. T., Santra S., Wanders R. J. A., Wen X. Y., Waterham H. R., Usdin K., van Karnebeek C. D. M. Glutaminase deficiency caused by short tandem repeat expansion in GLS New England journal of medicine 2019;380 (15):1433-1441 [PubMed]
• Bleeker Jeannette C., Kok Irene L., Ferdinandusse Sacha, van der Pol W. Ludo, Cuppen Inge, Bosch Annet M., Langeveld Mirjam, Derks Terry G. J., Williams Monique, de Vries Maaike, Mulder Margot F., Gozalbo Estela R., de Sain-van der Velden Monique G. M., Rennings Alexander J., Schielen Peter J. C. I., Dekkers Eugenie, Houtkooper Riekelt H., Waterham Hans R., Pras-Raves Mia L., Wanders Ronald J. A., van Hasselt Peter M., Schoenmakers Marja, Wijburg Frits A., Visser Gepke Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes Journal of inherited metabolic disease 2019;42 (3):414-423 [PubMed]
• Berendse Kevin, Boek Maxim, Gijbels Marion, van der Wel Nicole N., Klouwer Femke C., van den Bergh-Weerman Marius A., Shinde Abhijit Babaji, Ofman Rob, Poll-The Bwee Tien, Houten Sander M., Baes Myriam, Wanders Ronald J. A., Waterham Hans R. Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2019;1865 (10):2774-2787 [PubMed]
• Carrier David J., van Roermund Carlo W. T., Schaedler Theresia A., Rong Hong Lin, IJlst Lodewijk, Wanders Ronald J. A., Baldwin Stephen A., Waterham Hans R., Theodoulou Frederica L., Baker Alison Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose Scientific reports 2019;9 (1) [PubMed]
• Chinopoulos Christos, Batzios Spyros, van den Heuvel Lambertus P., Rodenburg Richard, Smeets Roel, Waterham Hans R., Turkenburg Marjolein, Ruiter Jos P., Wanders Ronald J. A., Doczi Judit, Horvath Gergo, Dobolyi Arpad, Vargiami Euthymia, Wevers Ron A., Zafeiriou Dimitrios Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder Molecular genetics and metabolism 2019;126 (1):43-52 [PubMed]
• Vaz Frédéric M., McDermott John H., Alders Mariëlle, Wortmann Saskia B., Kölker Stefan, Pras-Raves Mia L., Vervaart Martin A. T., van Lenthe Henk, Luyf Angela C. M., Elfrink Hyung L., Metcalfe Kay, Cuvertino Sara, Clayton Peter E., Yarwood Rebecca, Lowe Martin P., Lovell Simon, Rogers Richard C., van Kampen Antoine H. C., Ruiter Jos P. N., Wanders Ronald J. A., Ferdinandusse Sacha, van Weeghel Michel, Engelen Marc, Banka Siddharth Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia Brain 2019;142 (11):3382-3397 [PubMed]
• Tort Frederic, Ugarteburu Olatz, Texidó Laura, Gea-Sorlí Sabrina, García-Villoria Judit, Ferrer-Cortès X. nia, Arias Ángela, Matalonga Leslie, Gort Laura, Ferrer Isidre, Guitart-Mampel Mariona, Garrabou Glòria, Vaz Frederick M., Pristoupilova Ana, Rodríguez María Isabel Esteban, Beltran Sergi, Cardellach Francesc, Wanders Ronald Ja, Fillat Cristina, García-Silva María Teresa, Ribes Antonia Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology Human mutation 2019;40 (10):1700-1712 [PubMed]
• Adam Aziza A. A., van der Mark Vincent A., Ruiter Jos P. N., Wanders Ronald J. A., Oude Elferink Ronald P. J., Chamuleau Robert A. F. M., Hoekstra Ruurdtje Overexpression of carbamoyl-phosphate synthase 1 significantly improves ureagenesis of human liver HepaRG cells only when cultured under shaking conditions Mitochondrion 2019;47:298-308 [PubMed]
• Wanders Ronald J. A. Phytanic acid metabolism in health and diseasein: Principles of Nutrigenetics and Nutrigenomics: Fundamentals of Individualized Nutrition. Elsevier; 2019. p. 341-346, ISBN 9780128045879
• van Rijt Willemijn J., Ferdinandusse Sacha, Giannopoulos Panagiotis, Ruiter Jos P. N., de Boer Lonneke, Bosch Annet M., Huidekoper Hidde H., Rubio-Gozalbo M. Estela, Visser Gepke, Williams Monique, Wanders Ronald J. A., Derks Terry G. J. Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study Journal of inherited metabolic disease 2019;42 (5):878-889 [PubMed]
• Klouwer Femke C. C., Koot Bart G. P., Berendse Kevin, Kemper Elles M., Ferdinandusse Sacha, Koelfat Kiran V. K., Lenicek Martin, Vaz Frédéric M., Engelen Marc, Jansen Peter L. M., Wanders Ronald J. A., Waterham Hans R., Schaap Frank G., Poll-The Bwee Tien The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy Journal of inherited metabolic disease 2019;42 (2):303-312 [PubMed]
• Wanders Ronald J. A., Vaz Frederic M., Ferdinandusse Sacha, van Kuilenburg André B. P., Kemp Stephan, van Karnebeek Clara D., Waterham Hans R., Houtkooper Riekelt H. Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era Journal of inherited metabolic disease 2019;42 (2):197-208 [PubMed]

2018

• Adam Aziza A. A., van Wenum Martien, van der Mark Vincent A., Jongejan Aldo, Moerland Perry D., Houtkooper Riekelt H., Wanders Ronald J. A., Oude Elferink Ronald P., Chamuleau Robert A. F. M., Hoekstra Ruurdtje AMC-Bio-Artificial Liver culturing enhances mitochondrial biogenesis in human liver cell lines: The role of oxygen, medium perfusion and 3D configuration Mitochondrion 2018;39:30-42 [PubMed]
• Ferdinandusse Sacha, Denis Simone, van Roermund Carlo W. T., Preece Mary Anne, Koster Janet, Ebberink Merel S., Waterham Hans R., Wanders Ronald J. A. A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2018;1864 (3):952-958 [PubMed]
• Chatzispyrou Iliana A., Guerrero-Castillo Sergio, Held Ntsiki M., Ruiter Jos P. N., Denis Simone W., IJlst Lodewijk, Wanders Ronald J., van Weeghel Michel, Ferdinandusse Sacha, Vaz Frédéric M., Brandt Ulrich, Houtkooper Riekelt H. Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2018;1864 (11):3650-3658 [PubMed]
• van Dijk Tessa, Ferdinandusse Sacha, Ruiter Jos P. N., Alders Mariëlle, Mathijssen Inge B., Parboosingh Jillian S., Innes A. Micheil, Meijers-Heijboer Hanne, Poll-The Bwee Tien, Bernier Francois P., Wanders Ronald J. A., Lamont Ryan E., Baas Frank Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis European journal of human genetics 2018;26 (12):1752-1758 [PubMed]
• Fitzsimons Patricia E., Alston Charlotte L., Bonnen Penelope E., Hughes Joanne, Crushell Ellen, Geraghty Michael T., Tetreault Martine, O'Reilly Peter, Twomey Eilish, Sheikh Yusra, Walsh Richard, Waterham Hans R., Ferdinandusse Sacha, Wanders Ronald J. A., Taylor Robert W., Pitt James J., Mayne Philip D. Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency American journal of medical genetics. Part A 2018;176 (5):1115-1127 [PubMed]
• Pomerantz Daniel J., Ferdinandusse Sacha, Cogan Joy, Cooper David N., Reimschisel Tyler, Robertson Amy, Bican Anna, McGregor Tracy, Gauthier Jackie, Millington David S., Andrae Jaime L. W., Tschannen Michael R., Helbling Daniel C., Demos Wendy M., Denis Simone, Wanders Ronald J. A., Newman John N., Hamid Rizwan, Phillips John A. Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant American journal of medical genetics. Part A 2018;176 (3):692-698 [PubMed]
• Knottnerus Suzan J. G., Bleeker Jeannette C., Wüst Rob C. I., Ferdinandusse Sacha, IJlst Lodewijk, Wijburg Frits A., Wanders Ronald J. A., Visser Gepke, Houtkooper Riekelt H. Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle Reviews in endocrine & metabolic disorders 2018;19 (1):93-106 [PubMed]
• Herzog Katharina, Pras-Raves Mia L., Ferdinandusse Sacha, Vervaart Martin A. T., Luyf Angela C. M., van Kampen Antoine H. C., Wanders Ronald J. A., Waterham Hans R., Vaz Frédéric M. Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics Journal of inherited metabolic disease 2018;41 (3):479–487 [PubMed]
• Falkenberg Kim D. Identification and characterization of novel peroxisomal disorders 2018. ISBN 9789462998872. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Waterham H. R., Wanders R. J. A.)
• van Weeghel Michel, Abdurrachim Desiree, Nederlof Rianne, Argmann Carmen A., Houtkooper Riekelt H., Hagen Jacob, Nabben Miranda, Denis Simone, Ciapaite Jolita, Kolwicz Stephen C., Lopaschuk Gary D., Auwerx Johan, Nicolay Klaas, Des Rosiers Christine, Wanders Ronald J., Zuurbier Coert J., Prompers Jeanine J., Houten Sander M. Increased cardiac fatty acid oxidation in a mousemodel with decreasedmalonyl-CoA sensitivity of CPT1B Cardiovascular research 2018;114 (10):1324-1334 [PubMed]
• van de Beek Malu-Clair Lipotoxicity in adrenoleukodystrophy: Size matters! 2018. 161p. ISBN 9789462997578. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wanders R. J. A., Wijburg F. A.; Co-supervisors: Kemp S., Poll The B. T.)
• Demaret Tanguy, Varma Sharat, Stephenne Xavier, Smets Françoise, Scheers Isabelle, Wanders Ronald, van Maldergem Lionel, Reding Raymond, Sokal Etienne Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up Pediatric transplantation 2018;22 (3) [PubMed]
• Gao Wen Metabolic control of aging in C. elegans 2018. 201p. ISBN 9789462998858. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisor: Houtkooper R. H. L.)
• Klouwer Femke C. C., Braverman Nancy E., Verkade Henkjan J., Berendse Kevin, Waterham Hans R., Wanders Ronald J. A., Poll-The Bwee Tien, Koot Bart G. P. Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution Journal of pediatric gastroenterology and nutrition 2018;66 (2):e57 [PubMed]
• Wanders Ronald J. A. Peroxisomal disorders: Improved laboratory diagnosis, new defects and the complicated route to treatment Molecular and cellular probes 2018;40:60-69 [PubMed]
• Wanders Ronald J. A., Waterham Hans R., Ferdinandusse Sacha Peroxisomes and their central role in metabolic interaction networks in humansin: Subcellular Biochemistry. Springer New York; 2018. p. 345-365
• Herzog Katharina, Pras-Raves Mia L., Ferdinandusse Sacha, Vervaart Martin A. T., Luyf Angela C. M., van Kampen Antoine H. C., Wanders Ronald J. A., Waterham Hans R., Vaz Frédéric M. Plasma lipidomics as a diagnostic tool for peroxisomal disorders Journal of inherited metabolic disease 2018;41 (3):489–498 [PubMed]
• van Weeghel Michel, Welling Lindsey, Treacy Eileen P., Wanders Ronald J. A., Ferdinandusse Sacha, Bosch Annet M. Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research Orphanet journal of rare diseases 2018;13 (1) [PubMed]
• Held Ntsiki M., Kuipers Eline N., van Weeghel Michel, van Klinken Jan Bert, Denis Simone W., Lombès Marc, Wanders Ronald J., Vaz Frédéric M., Rensen Patrick C. N., Verhoeven Arthur J., Boon Mariëtte R., Houtkooper Riekelt H. Pyruvate dehydrogenase complex plays a central role in brown adipocyte energy expenditure and fuel utilization during short-term beta-adrenergic activation Scientific reports 2018;8 (1) [PubMed]
• Morita Masashi, Matsumoto Shun, Sato Airi, Inoue Kengo, Kostsin Dzmitry G, Yamazaki Kozue, Kawaguchi Kosuke, Shimozawa Nobuyuki, Kemp Stephan, Wanders Ronald J, Kojima Hirotatsu, Okabe Takayoshi, Imanaka Tsuneo Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy JIMD reports 2018;44:23-31 [PubMed]
• Shai Nadav, Yifrach Eden, van Roermund Carlo W. T., Cohen Nir, Bibi Chen, Ijlst Lodewijk, Cavellini Laetitia, Meurisse Julie, Schuster Ramona, Zada Lior, Mari Muriel C., Reggiori Fulvio M., Hughes Adam L., Escobar-Henriques Mafalda, Cohen Mickael M., Waterham Hans R., Wanders Ronald J. A., Schuldiner Maya, Zalckvar Einat Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact Nature communications 2018;9 (1) [PubMed]
• Chatzispyrou Iliana A. The role of mitochondrial metabolism in health and disease 2018. ISBN 9789402810172. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisor: Houtkooper R. H. L.)
• van Karnebeek Clara D. M., Wortmann Saskia B., Tarailo-Graovac Maja, Langeveld Mirjam, Ferreira Carlos R., van de Kamp Jiddeke M., Hollak Carla E., Wasserman Wyeth W., Waterham Hans R., Wevers Ron A., Haack Tobias B., Wanders Ronald J. A., Boycott Kym M. The role of the clinician in the multi-omics era: are you ready? Journal of inherited metabolic disease 2018;41 (3):571-582 [PubMed]

2017

• Ferdinandusse Sacha, Falkenberg Kim D., Koster Janet, Mooyer Petra A., Jones Richard, van Roermund Carlo W. T., Pizzino Amy, Schrader Michael, Wanders Ronald J. A., Vanderver Adeline, Waterham Hans R. ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism Journal of medical genetics 2017;54 (5):330-337 [PubMed]
• Nederlof Rianne, Denis Simone, Lauzier Benjamin, Rosiers Christine Des, Laakso Markku, Hagen Jacob, Argmann Carmen, Wanders Ronald, Houtkooper Riekelt H., Hollmann Markus W., Houten Sander M., Zuurbier Coert J. Acute detachment of hexokinase II from mitochondria modestly increases oxygen consumption of the intact mouse heart Metabolism: clinical and experimental 2017;72:66-74 [PubMed]
• Moedas M. F., Adam A. A. A., Farelo M. A., IJlst L., Chamuleau R. A. F. M., Hoekstra R., Wanders R. J. A., Silva M. F. B. Advances in methods for characterization of hepatic urea cycle enzymatic activity in HepaRG cells using UPLC-MS/MS Analytical biochemistry 2017;535:47-55 [PubMed]
• Falkenberg Kim D., Braverman Nancy E., Moser Ann B., Steinberg Steven J., Klouwer Femke C. C., Schlüter Agatha, Ruiz Montserrat, Pujol Aurora, Engvall Martin, Naess Karin, van Spronsen Francjan, Körver-Keularts Irene, Rubio-Gozalbo M. Estela, Ferdinandusse Sacha, Wanders Ronald J. A., Waterham Hans R. Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder American journal of human genetics 2017;101 (6):965-976 [PubMed]
• Schackmann Martin J. A. Biochemical and cell biological aspects of X-linked adrenoleukodystrophy 2017. 127p. ISBN 9789462956179. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisor: Kemp S.)
• Wanders Ronald J. A., Klouwer Femke C. C., Ferdinandusse Sacha, Waterham Hans R., Poll-Thé Bwee Tien Clinical and Laboratory Diagnosis of Peroxisomal Disorders Methods in molecular biology (Clifton, N.J.) 2017;1595:329-342 [PubMed]
• Huffnagel Irene C., van de Beek Malu-Clair, Showers Amanda L., Orsini Joseph J., Klouwer Femke C. C., Dijkstra Inge M. E., Schielen Peter C., van Lenthe Henk, Wanders Ronald J. A., Vaz Frédéric M., Morrissey Mark A., Engelen Marc, Kemp Stephan Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy Molecular genetics and metabolism 2017;122 (4):209-215 [PubMed]
• Klouwer Femke C. C., Ferdinandusse Sacha, van Lenthe Henk, Kulik Wim, Wanders Ronald J. A., Poll-The Bwee Tien, Waterham Hans R., Vaz Frédéric M. Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders Journal of inherited metabolic disease 2017;40 (6):875-881 [PubMed]
• Herzog Katharina, van Lenthe Henk, Wanders Ronald J. A., Vaz Frédéric M., Waterham Hans R., Ferdinandusse Sacha Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders Molecular genetics and metabolism 2017;121 (3):279-282 [PubMed]
• Palir Neža, Ruiter Jos P. N., Wanders Ronald J. A., Houtkooper Riekelt H. Identification of enzymes involved in oxidation of phenylbutyrate Journal of lipid research 2017;58 (5):955-961 [PubMed]
• Wüst Rob C. I., Visser Gepke, Wanders Ronald J. A., Houtkooper Riekelt H. Ketones and inborn errors of metabolism: old friends revisited Journal of inherited metabolic disease 2017;40 (1):3-4 [PubMed]
• Bedoyan Jirair K., Yang Samuel P., Ferdinandusse Sacha, Jack Rhona M., Miron Alexander, Grahame George, DeBrosse Suzanne D., Hoppel Charles L., Kerr Douglas S., Wanders Ronald J. A. Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency Molecular genetics and metabolism 2017;120 (4):342-349 [PubMed]
• van de Beek Malu-Clair, Ofman Rob, Dijkstra Inge, Wijburg Frits, Engelen Marc, Wanders Ronald, Kemp Stephan Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2017;1863 (9):2255-2265 [PubMed]
• Herzog Katharina Metabolomics to study functional consequences in peroxisomal disorders 2017. 215p. ISBN 9789462997639. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Waterham H. R., Wanders R. J. A.; Co-supervisor: Vaz F. M.)
• Oud Machteld M., Tuijnenburg Paul, Hempel Maja, van Vlies Naomi, Ren Zemin, Ferdinandusse Sacha, Jansen Machiel H., Santer René, Johannsen Jessika, Bacchelli Chiara, Alders Marielle, Li Rui, Davies Rosalind, Dupuis Lucie, Cale Catherine M., Wanders Ronald J. A., Pals Steven T., Ocaka Louise, James Chela, Müller Ingo, Lehmberg Kai, Strom Tim, Engels Hartmut, Williams Hywel J., Beales Phil, Roepman Ronald, Dias Patricia, Brunner Han G., Cobben Jan-Maarten, Hall Christine, Hartley Taila, Le Quesne Stabej Polona, Mendoza-Londono Roberto, Davies E. Graham, de Sousa Sérgio B., Lessel Davor, Arts Heleen H., Kuijpers Taco W. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome American journal of human genetics 2017;100 (2):281-296 [PubMed]
• Maxit C., Denzler I., Marchione D., Agosta G., Koster J., Wanders R. J. A., Ferdinandusse S., Waterham H. R. Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder JIMD reports 2017;34:71-75 [PubMed]
• Wanders Ronald J. A. Peroxisomal Diseasesin: John Stein, editors. Reference Module in Neuroscience and Biobehavioral Psychology. S.l.: Elsevier; 2017. p. 1-5, ISBN 9780128093245
• Wanders Ronald J. A., Poll-The Bwee Tien "Role of peroxisomes in human lipid metabolism and its importance for neurological development" Neuroscience letters 2017;637:11-17 [PubMed]
• Al-Saryi Nadal A., Al-Hejjaj Murtakab Y., van Roermund Carlo W. T., Hulmes Georgia E., Ekal Lakhan, Payton Chantell, Wanders Ronald J. A., Hettema Ewald H. Two NAD-linked redox shuttles maintain the peroxisomal redox balance in Saccharomyces cerevisiae Scientific reports 2017;7 (1):11868 [PubMed]

2016

• Kemp Stephan, Huffnagel Irene C., Linthorst Gabor E., Wanders Ronald J., Engelen Marc Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history Nature reviews. Endocrinology 2016;12 (10):606-615 [PubMed]
• Schottmann Gudrun, Sarpong Akosua, Lorenz Carmen, Weinhold Natalie, Gill Esther, Teschner Lisa, Ferdinandusse Sacha, Wanders Ronald J. A., Prigione Alessandro, Schuelke Markus A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene Movement disorders 2016;31 (11):1733-1739 [PubMed]
• Dercksen Marli, Duran Marinus, Ijlst Lodewijk, Kulik Wim, Ruiter Jos P. N., van Cruchten Arno, Tuchman Mendel, Wanders Ronald J. A. A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue Molecular genetics and metabolism 2016;119 (4):307-310 [PubMed]
• van de Beek Malu-Clair, Dijkstra Inge M. E., van Lenthe Henk, Ofman Rob, Goldhaber-Pasillas Dalia, Schauer Nicolas, Schackmann Martin, Engelen-Lee Joo-Yeon, Vaz Frédéric M., Kulik Wim, Wanders Ronald J. A., Engelen Marc, Kemp Stephan C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man PLoS ONE 2016;11 (4):e0154597 [PubMed]
• Berendse Kevin, Klouwer Femke C. C., Koot Bart G. P., Kemper Elles M., Ferdinandusse Sacha, Koelfat Kiran V. K., Lenicek Martin, Schaap Frank G., Waterham Hans R., Vaz Frédéric M., Engelen Marc, Jansen Peter L. M., Wanders Ronald J. A., Poll-The Bwee Tien Cholic acid therapy in Zellweger spectrum disorders Journal of inherited metabolic disease 2016;39 (6):859-868 [PubMed]
• Klouwer Femke C. C., Huffnagel Irene C., Ferdinandusse Sacha, Waterham Hans R., Wanders Ronald J. A., Engelen Marc, Poll-The Bwee Tien Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders Neuropediatrics 2016;47 (4):205-220 [PubMed]
• van Engen Catherine E., Ofman Rob, Dijkstra Inge M. E., van Goethem Tessa Jacobs, Verheij Eveline, Varin Jennifer, Vidaud Michel, Wanders Ronald J. A., Aubourg Patrick, Kemp Stephan, Barbier Mathieu CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2016;1862 (10):1861-1870 [PubMed]
• Pougovkina Olga Functional interplay between protein acylation and cellular metabolism in metabolic disorders 2016. 159p. ISBN 9789462039728. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisor: de Boer V. C. J.)
• Waterham Hans R., Ferdinandusse Sacha, Wanders Ronald J. A. Human disorders of peroxisome metabolism and biogenesis BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH 2016;1863 (5):922-933 [PubMed]
• Zhang Ling, Voskuijl Wieger, Mouzaki Marialena, Groen Albert K., Alexander Jennifer, Bourdon Celine, Wang Alice, Versloot Christian J., Di Giovanni Valeria, Wanders Ronald J. A., Bandsma Robert Impaired Bile Acid Homeostasis in Children with Severe Acute Malnutrition PLoS ONE 2016;11 (5):e0155143 [PubMed]
• Wanders Ronald J. A., Aubourg Patrick, Poll-The Bwee-Tien Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disordersin: Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter, editors. Inborn Metabolic Diseases Diagnosis and Treatment (6th Edition). Berlin: Springer; 2016. p. 591-606, ISBN 9783662497769
• Poll-The Bwee T., Wanders Ronaldus J. A., Waterham Hans R. Inherited Metabolic Disease in Adults; A Clinical Guide.in: Peroxisomal disorders. New York: Oxford University Press; 2016. p. 395-405
• Vaz Frederic M., Wanders Ronald J. A. Interpretation of Very-Long-Chain Fatty Acids Analysis Resultsin: Carla E.M. Hollak, Robin Lachmann, editors. Inherited Metabolic Disease in Adults: A Clinical Guide. Oxford University Press; 2016. p. 573-575, ISBN 9780199972135
• Herzog Katharina, Pras-Raves Mia L., Vervaart Martin A. T., Luyf Angela C. M., van Kampen Antoine H. C., Wanders Ronald J. A., Waterham Hans R., Vaz Frédéric M. Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios Journal of lipid research 2016;57 (8):1447-1454 [PubMed]
• van Zutphen Tim, Ciapaite Jolita, Bloks Vincent W., Ackereley Cameron, Gerding Albert, Jurdzinski Angelika, de Moraes Roberta Allgayer, Zhang Ling, Wolters Justina C., Bischoff Rainer, Wanders Ronald J., Houten Sander M., Bronte-Tinkew Dana, Shatseva Tatiana, Lewis Gary F., Groen Albert K., Reijngoud Dirk-Jan, Bakker Barbara M., Jonker Johan W., Kim Peter K., Bandsma Robert H. J. Malnutrition-associated liver steatosis and ATP depletion is caused by peroxisomal and mitochondrial dysfunction Journal of hepatology 2016;65 (6):1198-1208 [PubMed]
• Wanders Ronald J. A., Waterham Hans R., Ferdinandusse Sacha Metabolic interplay between peroxisomes and other subcellular organelles including mitochondria and the endoplasmic reticulum Frontiers in cell and developmental biology 2016;3 (JAN):83 [PubMed]
• Horn Morten A., Mikaelsen Karin B. M., Ferdinandusse Sacha, Jørum Ellen, Mellgren Svein I., Retterstøl Lars, Wanders Ronald J. A., Tallaksen Chantal M. E. Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report Clinical case reports 2016;4 (2):177-181 [PubMed]
• Djouadi Fatima, Habarou Florence, Le Bachelier Carole, Ferdinandusse Sacha, Schlemmer Dimitri, Benoist Jean François, Boutron Audrey, Andresen Brage S., Visser Gepke, de Lonlay Pascale, Olpin Simon, Fukao Toshiyuki, Yamaguchi Seiji, Strauss Arnold W., Wanders Ronald J. A., Bastin Jean Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate Journal of inherited metabolic disease 2016;39 (1):47-58 [PubMed]
• Moedas Marco F. S. New roles of deacetylase inhibitors in the modulation of mitochondrial amino acid oxidation and nitrogen metabolism 2016. [UvA Dissertations Online] Universidade de Lisboa: Faculdade de Farmacia. (Supervisors: Fernandes Baptista e Silva M. M., Wanders R. J. A.)
• Witters Peter, Régal Luc, Waterham Hans R., de Meirleir Linda, Wanders Ronald J. A., Morava Eva Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation American journal of medical genetics. Part A 2016;170A (6):1642-1646 [PubMed]
• Schackmann Martin J. A., Ofman Rob, van Geel Björn M., Dijkstra Inge M. E., van Engelen Klaartje, Wanders Ronald J. A., Engelen Marc, Kemp Stephan Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics Molecular genetics and metabolism 2016;118 (2):123-127 [PubMed]
• Wanders Ronald J. A. Peroxisomal diseasesin: The Curated Reference Collection in Neuroscience and Biobehavioral Psychology. Elsevier Science Ltd.; 2016. p. 869-872
• Poll-The Bwee Tien, Wanders Ronald J. A., Waterham Hans R. Peroxisomal Disordersin: Carla E.M. Hollak, Robin Lachmann, editors. Inherited Metabolic Disease in Adults: A Clinical Guide. Oxford University Press; 2016. p. 395-405, ISBN 9780199972135
• Dercksen M., Kulik W., Mienie L. J., Reinecke C. J., Wanders R. J. A., Duran M. Polyunsaturated fatty acid status in treated isovaleric acidemia patients European journal of clinical nutrition 2016;70 (10):1123-1126 [PubMed]
• Hollak Carla E. M., Biegstraaten Marieke, Baumgartner Matthias R., Belmatoug Nadia, Bembi Bruno, Bosch Annet, Brouwers Martijn, Dekker Hanka, Dobbelaere Dries, Engelen Marc, Groenendijk Marike C., Lachmann Robin, Langendonk Janneke G., Langeveld Mirjam, Linthorst Gabor, Morava Eva, Poll-The Bwee Tien, Rahman Shamima, Rubio-Gozalbo M. Estela, Spiekerkoetter Ute, Treacy Eileen, Wanders Ronald, Zschocke Johannes, Hagendijk Rob Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks Orphanet journal of rare diseases 2016;11 (1):7 [PubMed]
• Houten Sander M., Violante Sara, Ventura Fatima V., Wanders Ronald J. A. The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders Annual review of physiology 2016;78:23-44 [PubMed]
• Schooneman Marieke G., Houtkooper Riekelt H., Hollak Carla E. M., Wanders Ronald J. A., Vaz Frédéric M., Soeters Maarten R., Houten Sander M. The impact of altered carnitine availability on acylcarnitine metabolism, energy expenditure and glucose tolerance in diet-induced obese mice BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2016;1862 (8):1375-1382 [PubMed]
• Ferdinandusse Sacha, Ebberink Merel S., Vaz Frédéric M., Waterham Hans R., Wanders Ronald J. A. The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders Journal of inherited metabolic disease 2016;39 (4):531-543 [PubMed]
• van Roermund Carlo W. T., Schroers Martin G., Wiese Jan, Facchinelli Fabio, Kurz Samantha, Wilkinson Sabrina, Charton Lennart, Wanders Ronald J. A., Waterham Hans R., Weber Andreas P. M., Link Nicole The Peroxisomal NAD Carrier from Arabidopsis Imports NAD in Exchange with AMP Plant physiology 2016;171 (3):2127-2139 [PubMed]
• Moedas Marco F., van Cruchten Arno G., Ijlst Lodewijk, Kulik Wim, de Almeida Isabel Tavares, Diogo Luisa, Wanders Ronald J. A., Silva Margarida F. B. Transient decrease of hepatic NAD(+) and amino acid alterations during treatment with valproate: new insights on drug-induced effects in vivo using targeted MS-based metabolomics Metabolomics 2016;12 (8):142
• Berendse Kevin Translational studies in Zellweger spectrum disorders 2016. 221p. ISBN 9789402802924. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Poll The B. T., Wanders R. J. A.)
• Berendse Kevin, Engelen Marc, Ferdinandusse Sacha, Majoie Charles B. L. M., Waterham Hans R., Vaz Frédéric M., Koelman Johannes H. T. M., Barth Peter G., Wanders Ronald J. A., Poll-The Bwee Tien Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood Journal of inherited metabolic disease 2016;39 (1):93-106 [PubMed]

2015

• Ferdinandusse Sacha, Jimenez-Sanchez Gerardo, Koster Janet, Denis Simone, van Roermund Carlo W., Silva-Zolezzi Irma, Moser Ann B., Visser Wouter F., Gulluoglu Mine, Durmaz Ozlem, Demirkol Mubeccel, Waterham Hans R., Gökcay Gülden, Wanders Ronald J. A., Valle David A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3 Human molecular genetics 2015;24 (2):361-370 [PubMed]
• Barøy Tuva, Koster Janet, Strømme Petter, Ebberink Merel S., Misceo Doriana, Ferdinandusse Sacha, Holmgren Asbjørn, Hughes Timothy, Merckoll Else, Westvik Jostein, Woldseth Berit, Walter John, Wood Nick, Tvedt Bjørn, Stadskleiv Kristine, Wanders Ronald J. A., Waterham Hans R., Frengen Eirik A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform Human molecular genetics 2015;24 (20):5845-5854 [PubMed]
• Wanders Ronald J. A., Duran Marinus, Loupatty Ference Branched Chain Amino Acid Oxidation Disordersin: Rajkumar Rajendram, Victor R. Preedy, Vinood B. Patel, editors. Branched Chain Amino Acids in Clinical Nutrition : Volume 1. New York: Springer; 2015. p. 129-143, ISBN 9781493919239; 9781493919222
• Dudek Jan, Cheng I.-Fen, Chowdhury Arpita, Wozny Katharina, Balleininger Martina, Reinhold Robert, Grunau Silke, Callegari Sylvie, Toischer Karl, Wanders Ronald Ja, Hasenfuß Gerd, Brügger Britta, Guan Kaomei, Rehling Peter Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome EMBO molecular medicine 2015;8 (2):139-154 [PubMed]
• Wessels Bart, van den Broek Nicole M. A., Ciapaite Jolita, Houten Sander M., Wanders Ronald J. A., Nicolay Klaas, Prompers Jeanine J. Carnitine supplementation in high-fat diet-fed rats does not ameliorate lipid-induced skeletal muscle mitochondrial dysfunction in vivo American journal of physiology. Endocrinology and metabolism 2015;309 (7):E670-E678 [PubMed]
• Ferdinandusse Sacha, Friederich Marisa W., Burlina Alberto, Ruiter Jos P. N., Coughlin Curtis R., Dishop Megan K., Gallagher Renata C., Bedoyan Jirair K., Vaz Frédéric M., Waterham Hans R., Gowan Katherine, Chatfield Kathryn, Bloom Kaitlyn, Bennett Michael J., Elpeleg Orly, van Hove Johan L. K., Wanders Ronald J. A. Clinical and biochemical characterization of four patients with mutations in ECHS1 Orphanet journal of rare diseases 2015;10 (1):79 [PubMed]
• Saudubray Jean-Marie, Baumgartner Matthias R., Wanders Ronald Complex lipids Journal of inherited metabolic disease 2015;38 (1):1 [PubMed]
• Kılıç Mustafa, Karlı-Oğuz Kader, Haliloğlu Göknur, Topçu Meral, Wanders Ronald James, Coşkun Turgay Conventional and advanced MR imaging in infantile Refsum disease Turkish journal of pediatrics 2015;57 (3):294-299 [PubMed]
• Schackmann Martin J. A., Ofman Rob, Dijkstra Inge M. E., Wanders Ronald J. A., Kemp Stephan Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2015;1851 (2):231-237 [PubMed]
• Scalais Emmanuel, Bottu Jean, Wanders Ronald J. A., Ferdinandusse Sacha, Waterham Hans R., de Meirleir Linda Familial Very Long Chain Acyl-CoA Dehydrogenase Deficiency as a Cause of Neonatal Sudden Infant Death: Improved Survival by Prompt Diagnosis American journal of medical genetics. Part A 2015;167 (1):211-214 [PubMed]
• Diekman Eugene F., Ferdinandusse Sacha, van der Pol Ludo, Waterham Hans R., Ruiter Jos P. N., Ijlst Lodewijk, Wanders Ronald J., Houten Sander M., Wijburg Frits A., Blank A. Christiaan, Asselbergs Folkert W., Houtkooper Riekelt H., Visser Gepke Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency Genetics in medicine 2015;17 (12):989-994 [PubMed]
• Hagen Jacob, te Brinke Heleen, Wanders Ronald J. A., Knegt Alida C., Oussoren Esmee, Hoogeboom A. Jeannette M., Ruijter George J. G., Becker Daniel, Schwab Karl Otfried, Franke Ingo, Duran Marinus, Waterham Hans R., Sass Jörn Oliver, Houten Sander M. Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria Journal of inherited metabolic disease 2015;38 (5):873-879 [PubMed]
• Schooneman Marieke Guurtje Here, there and everywhere. A multi organ approach to acylcarnitine metabolism 2015. 165p. ISBN 9789090288666. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Hollak C. E. M., Wanders R. J. A.; Co-supervisors: Soeters M. R., Houten S. M.)
• Diekman Eugène F. Long-chain fatty acid oxidation disorders - Biochemical, pathophysiological and clinical aspects 2015. 217p. ISBN 9789461696441. [UvA Dissertations Online] Utrecht University. (Supervisors: Nieuwenhuis E. E. S., Wanders R. J. A.; Co-supervisors: Visser G., Houten S. M.)
• Peters Heidi, Ferdinandusse Sacha, Ruiter Jos P., Wanders Ronald J. A., Boneh Avihu, Pitt James Metabolite studies in HIBCH and ECHS1 defects: Implications for screening Molecular genetics and metabolism 2015;115 (4):168-173 [PubMed]
• Chatfield Kathryn C., Coughlin Curtis R., Friederich Marisa W., Gallagher Renata C., Hesselberth Jay R., Lovell Mark A., Ofman Rob, Swanson Michael A., Thomas Janet A., Wanders Ronald J. A., Wartchow Eric P., van Hove Johan L. K. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing Mitochondrion 2015;21:1-10 [PubMed]
• Jansen Robert S., Addie Ruben, Merkx Remco, Fish Alexander, Mahakena Sunny, Bleijerveld Onno B., Altelaar Maarten, Ijlst Lodewijk, Wanders Ronald J., Borst P., van de Wetering Koen N-lactoyl-amino acids are ubiquitous metabolites that originate from CNDP2-mediated reverse proteolysis of lactate and amino acids Proceedings of the National Academy of Sciences of the United States of America 2015;112 (21):6601-6606 [PubMed]
• Wanders Ronald J. A. Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficienciesin: Aubrey Milunsky, Jeff M. Milunski, editors. Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment. Chichester: John Wiley; 2015. p. 838-850, ISBN 9781118981528
• Colak Gozde, Pougovkina Olga, Dai Lunzhi, Tan Minjia, te Brinke Heleen, Huang He, Cheng Zhongyi, Park Jeongsoon, Wan Xuelian, Liu Xiaojing, Yue Wyatt W., Wanders Ronald J. A., Locasale Jason W., Lombard David B., de Boer Vincent C. J., Zhao Yingming Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation Molecular & cellular proteomics 2015;14 (11):3056-3071 [PubMed]
• Engelen Marc, Barbier Mathieu, Dijkstra Inge M. E., Schür Remmelt, de Bie Rob M., Verhamme Camiel, Dijkgraaf Marcel G. W., Aubourg Patrick A., Wanders Ronald J. A., van Geel Bjorn M., de Visser Marianne, Poll-The Bwee T., Kemp Stephan Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy Brain 2015;138 (2):e326 [PubMed]
• Vaz Frédéric M., Paulusma Coen C., Huidekoper Hidde, de Ru Minke, Lim Cynthia, Koster Janet, Ho-Mok Kam, Bootsma Albert H., Groen Albert K., Schaap Frank G., Oude Elferink Ronald P. J., Waterham Hans R., Wanders Ronald J. A. Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype Hepatology (Baltimore, Md.) 2015;61 (1):260-267 [PubMed]
• Körver-Keularts I. M. L. W., de Visser M., Bakker H. D., Wanders R. J. A., Vansenne F., Scholte H. R., Dorland L., Nicolaes G. A. F., Spaapen L. M. J., Smeets H. J. M., Hendrickx A. T. M., van den Bosch B. J. C. Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy JIMD reports 2015;22:39-45 [PubMed]
• Klouwer Femke C. C., Berendse Kevin, Ferdinandusse Sacha, Wanders Ronald J. A., Engelen Marc, Poll-The Bwee Tien Zellweger spectrum disorders: clinical overview and management approach Orphanet journal of rare diseases 2015;10:151 [PubMed]

2014

• Pougovkina Olga, te Brinke Heleen, Wanders Ronald J. A., Houten Sander M., de Boer Vincent C. J. Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism Journal of inherited metabolic disease 2014;37 (5):709-714 [PubMed]
• van Roermund Carlo W. T., Ijlst Lodewijk, Wagemans Tom, Wanders Ronald J. A., Waterham Hans R. A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2014;1841 (4):563-568 [PubMed]
• Peters Heidi, Buck Nicole, Wanders Ronald, Ruiter Jos, Waterham Hans, Koster Janet, Yaplito-Lee Joy, Ferdinandusse Sacha, Pitt James ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism Brain 2014;137 (Part 11):2903-2908 [PubMed]
• Diekman Eugene F., van Weeghel Michel, Wanders Ronald J. A., Visser Gepke, Houten Sander M. Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models FASEB journal 2014;28 (7):2891-2900 [PubMed]
• van Weeghel Michel, Ofman Rob, Argmann Carmen A., Ruiter Jos P. N., Claessen Nike, Oussoren Saskia V., Wanders Ronald J. A., Aten Jan, Houten Sander M. Identification and characterization of Eci3, a murine kidney-specific Δ3,Δ2-enoyl-CoA isomerase FASEB journal 2014;28 (3):1365-1374 [PubMed]
• Dercksen M., IJlst L., Duran M., Mienie L. J., van Cruchten A., van der Westhuizen F. H., Wanders R. J. A. Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2014;1842 (12 Part A):2510-2516 [PubMed]
• Dercksen Marli Isovaleric acidemia: An integrated approach toward predictive laboratory medicine 2014. 198p. ISBN 9789090284422. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wanders R. J. A., Reinecke C. J.; Co-supervisor: Duran M.)
• Wanders Ronald J. A. Metabolic functions of peroxisomes in health and disease Biochimie 2014;98:36-44 [PubMed]
• Houten Sander M., Denis Simone, te Brinke Heleen, Jongejan Aldo, van Kampen Antoine H. C., Bradley Edward J., Baas Frank, Hennekam Raoul C. M., Millington David S., Young Sarah P., Frazier Dianne M., Gucsavas-Calikoglu Muge, Wanders Ronald J. A. Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia Human molecular genetics 2014;23 (18):5009-5016 [PubMed]
• Pougovkina Olga, te Brinke Heleen, Ofman Rob, van Cruchten Arno G., Kulik Wim, Wanders Ronald J. A., Houten Sander M., de Boer Vincent C. J. Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation Human molecular genetics 2014;23 (13):3513-3522 [PubMed]
• Wang Gang, McCain Megan L., Yang Luhan, He Aibin, Pasqualini Francesco Silvio, Agarwal Ashutosh, Yuan Hongyan, Jiang Dawei, Zhang Donghui, Zangi Lior, Geva Judith, Roberts Amy E., Ma Qing, Ding Jian, Chen Jinghai, Wang Da-Zhi, Li Kai, Wang Jiwu, Wanders Ronald J. A., Kulik Wim, Vaz Frédéric M., Laflamme Michael A., Murry Charles E., Chien Kenneth R., Kelley Richard I., Church George M., Parker Kevin Kit, Pu William T. Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies Nature medicine 2014;20 (6):616-623 [PubMed]
• van Hasselt Peter M., Ferdinandusse Sacha, Monroe Glen R., Ruiter Jos P. N., Turkenburg Marjolein, Geerlings Maartje J., Duran Karen, Harakalova Magdalena, van der Zwaag Bert, Monavari Ardeshir A., Okur Ilyas, Sharrard Mark J., Cleary Maureen, O'Connell Nuala, Walker Valerie, Rubio-Gozalbo M. Estela, de Vries Maaike C., Visser Gepke, Houwen Roderick H. J., van der Smagt Jasper J., Verhoeven-Duif Nanda M., Wanders Ronald J. A., van Haaften Gijs Monocarboxylate transporter 1 deficiency and ketone utilization New England journal of medicine 2014;371 (20):1900-1907 [PubMed]
• da Silva Tiago Ferreira, Eira Jessica, Lopes André T., Malheiro Ana R., Sousa Vera, Luoma Adrienne, Avila Robin L., Wanders Ronald J. A., Just Wilhelm W., Kirschner Daniel A., Sousa Mónica M., Brites Pedro Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination Journal of clinical investigation 2014;124 (6):2560-2570 [PubMed]
• Lines Matthew A., Jobling Rebekah, Brady Lauren, Marshall Christian R., Scherer Stephen W., Rodriguez Amadeo R., Lee Liesly, Lang Anthony E., Mestre Tiago A., Wanders Ronald J. A., Ferdinandusse Sacha, Tarnopolsky Mark A. Peroxisomal D-bifunctional protein deficiency Three adults diagnosed by whole-exome sequencing Neurology 2014;82 (11):963-968 [PubMed]
• Wanders R. J. A. Peroxisomal Diseasesin: Michael Aminoff, Robert Daroff, editors. Encyclopedia of the neurological sciences (2nd ed.). S.l.: Elsevier; 2014. p. 869-872, ISBN 9780123851574
• Bwee Tien Poll-The, Wanders Ronald J. A. Peroxisomal Disordersin: N. Blau, M. Duran, K. M. Gibson, C. Dionisi-Vici, editors. Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. New York; Berlin: Springer; 2014. p. 375-397, ISBN 9783642403378
• Wanders Ronald J. A., Ferdinandusse Sacha, Waterham Hans R. Peroxisomes in humans: metabolic functions, cross talk with other organelles, and pathophysiology of peroxisomal disordersin: Cécile Brocard, Andreas Hartig, editors. Molecular machines involved in peroxisome biogenesis and maintenance. Wien: Springer; 2014. p. 37-60, ISBN 9783709117873
• Zutt R., van der Kooi A. J., Linthorst G. E., Wanders R. J. A., de Visser M. Rhabdomyolysis: review of the literature Neuromuscular disorders 2014;24 (8):651-659 [PubMed]
• Geillon Flore, Gondcaille Catherine, Charbonnier Soëli, van Roermund Carlo W., Lopez Tatiana E., Dias Alexandre M. M., Pais de Barros Jean-Paul, Arnould Christine, Wanders Ronald J., Trompier Doriane, Savary Stéphane Structure-function analysis of peroxisomal ATP-binding cassette transporters using chimeric dimers Journal of biological chemistry 2014;289 (35):24511-24520 [PubMed]
• Jank Johanna M., Maier Esther M., Reiβ Dunja D., Haslbeck Martin, Kemter Kristina F., Truger Marietta S., Sommerhoff Christian P., Ferdinandusse Sacha, Wanders Ronald J., Gersting Søren W., Muntau Ania C. The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase PLoS ONE 2014;9 (4):e93852 [PubMed]
• Yakunin Eugenia, Kisos Haya, Kulik Willem, Grigoletto Jessica, Wanders Ronald J. A., Sharon Ronit The regulation of catalase activity by PPAR gamma is affected by alpha-synuclein Annals of clinical and translational neurology 2014;1 (3):145-159 [PubMed]
• Luís Paula B. M., Ruiter Jos, Ijlst Lodewijk, de Almeida Isabel Tavares, Duran Marinus, Wanders Ronald J. A., Silva Margarida F. B. Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases Journal of inherited metabolic disease 2014;37 (3):353-357 [PubMed]
• Engelen Marc, Barbier Mathieu, Dijkstra Inge M. E., Schür Remmelt, de Bie Rob M. A., Verhamme Camiel, Dijkgraaf Marcel G. W., Aubourg Patrick A., Wanders Ronald J. A., van Geel Bjorn M., de Visser Marianne, Poll-The Bwee T., Kemp Stephan X-linked adrenoleukodystrophy in women: a cross-sectional cohort study Brain 2014;137 (Part 3):693-706 [PubMed]

2013

• Kingma Sandra D. K., Langereis Eveline J., de Klerk Clasine M., Zoetekouw Lida, Wagemans Tom, IJlst Lodewijk, Wanders Ronald J. A., Wijburg Frits A., van Vlies Naomi An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life Orphanet journal of rare diseases 2013;8 (1):99 [PubMed]
• Berendse Kevin, Ebberink Merel S., Ijlst Lodewijk, Poll-The Bwee Tien, Wanders Ronald J. A., Waterham Hans R. Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder Orphanet journal of rare diseases 2013;8 (1):138 [PubMed]
• Gonzalvez François, D'Aurelio Marilena, Boutant Marie, Moustapha Aoula, Puech Jean-Philippe, Landes Thomas, Arnauné-Pelloquin Laeticia, Vial Guillaume, Taleux Nellie, Slomianny Christian, Wanders Ronald J., Houtkooper Riekelt H., Bellenguer Pascale, Møller Ian Max, Gottlieb Eyal, Vaz Frederic M., Manfredi Giovanni, Petit Patrice X. Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2013;1832 (8):1194-1206 [PubMed]
• Dudek Jan, Cheng I.-Fen, Balleininger Martina, Vaz Frédéric M., Streckfuss-Bömeke Katrin, Hübscher Daniela, Vukotic Milena, Wanders Ronald J. A., Rehling Peter, Guan Kaomei Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome Stem cell research 2013;11 (2):806-819 [PubMed]
• Violante Sara, Ijlst Lodewijk, te Brinke Heleen, Tavares de Almeida Isabel, Wanders Ronald J. A., Ventura Fátima V., Houten Sander M. Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines FASEB journal 2013;27 (5):2039-2044 [PubMed]
• Engelen Marc, Ofman Rob, Dijkgraaf Marcel, van Geel Bjorn, de Visser Marianne, Wanders Ronald, Poll-The Bwee Tien, Kemp Stephan Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit" Clinical neurology and neurosurgery 2013;115 (11):2401-2402 [PubMed]
• Gronemeyer Thomas, Wiese Sebastian, Ofman Rob, Bunse Christian, Pawlas Magdalena, Hayen Heiko, Eisenacher Martin, Stephan Christian, Meyer Helmut E., Waterham Hans R., Erdmann Ralf, Wanders Ronald J., Warscheid Bettina Correction: The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey PLoS ONE 2013;8 (10):e57395.correction
• van Weeghel Michel Fatty acid oxidation in health and disease 2013. 134p. ISBN 9789461916679. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisor: Houten S. M.)
• Houten Sander M., te Brinke Heleen, Denis Simone, Ruiter Jos Pn, Knegt Alida C., de Klerk Johannis Bc, Augoustides-Savvopoulou Persephone, Häberle Johannes, Baumgartner Matthias R., Coşkun Turgay, Zschocke Johannes, Sass Jörn Oliver, Poll-The Bwee Tien, Wanders Ronald Ja, Duran Marinus Genetic basis of hyperlysinemia Orphanet journal of rare diseases 2013;8 (1):57 [PubMed]
• Ferdinandusse Sacha, Waterham Hans R., Heales Simon J. R., Brown Garry K., Hargreaves Iain P., Taanman Jan-Willem, Gunny Roxana, Abulhoul Lara, Wanders Ronald J. A., Clayton Peter T., Leonard James V., Rahman Shamima HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase Orphanet journal of rare diseases 2013;8 (1):188 [PubMed]
• Aslami Hamid, Pulskens Wilco P., Kuipers Maria T., Bos Aafkeline P., van Kuilenburg André B. P., Wanders Ronald J. A., Roelofsen Jeroen, Roelofs Joris J. T. H., Kerindongo Raphaela P., Beurskens Charlotte J. P., Schultz Marcus J., Kulik Wim, Weber Nina C., Juffermans Nicole P. Hydrogen sulfide donor NaHS reduces organ injury in a rat model of pneumococcal pneumosepsis, associated with improved bio-energetic status PLoS ONE 2013;8 (5):e63497 [PubMed]
• Houten Sander M., Herrema Hilde, te Brinke Heleen, Denis Simone, Ruiter Jos P. N., van Dijk Theo H., Argmann Carmen A., Ottenhoff Roelof, Müller Michael, Groen Albert K., Kuipers Folkert, Reijngoud Dirk-Jan, Wanders Ronald J. A. Impaired amino acid metabolism contributes to fasting-induced hypoglycemia in fatty acid oxidation defects Human molecular genetics 2013;22 (25):5249-5261 [PubMed]
• de Marcos Lousa Carine, van Roermund Carlo W. T., Postis Vincent L. G., Dietrich Daniela, Kerr Ian D., Wanders Ronald J. A., Baldwin Stephen A., Baker Alison, Theodoulou Frederica L. Intrinsic acyl-CoA thioesterase activity of a peroxisomal ATP binding cassette transporter is required for transport and metabolism of fatty acids Proceedings of the National Academy of Sciences of the United States of America 2013;110 (4):1279-1284 [PubMed]
• Marcadier Julien L., Smith Amanda M., Pohl Daniela, Schwartzentruber Jeremy, Al-Dirbashi Osama Y., Majewski Jacek, Ferdinandusse Sacha, Wanders Ronald J. A., Bulman Dennis E., Boycott Kym M., Chakraborty Pranesh, Geraghty Michael T., Boycott Kym, Friedman Jan, Michaud Jacques, Bernier Francois, Brudno Michael, Fernandez Bridget, Knoppers Bartha, Samuels Mark, Scherer Steve Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria Orphanet journal of rare diseases 2013;8 (1):98 [PubMed]
• Diekman Eugène F., Boelen Carolien C. A., Prinsen Berthil H. C. M. T., Ijlst Lodewijk, Duran Marinus, de Koning Tom J., Waterham Hans R., Wanders Ronald J. A., Wijburg Frits A., Visser Gepke Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency JIMD reports 2013;7:1-6 [PubMed]
• Violante Sara Novel aspects of carnitine function and metabolism 2013. [UvA Dissertations Online] Universiteit van Lissabon: Medicine. (Supervisors: Ventura F., Wanders R. J. A.; Co-supervisor: Houten Sander M.)
• Dercksen Marli, Koekemoer Gerhard, Duran Marinus, Wanders Ronald J. A., Mienie Lodewyk J., Reinecke Carolus J. Organic acid profile of isovaleric acidemia: a comprehensive metabolomics approach Metabolomics 2013;9 (4):765-777
• Violante Sara, Ijlst Lodewijk, te Brinke Heleen, Koster Janet, Tavares de Almeida Isabel, Wanders Ronald J. A., Ventura Fátima V., Houten Sander M. Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2013;1831 (9):1467-1474 [PubMed]
• Wanders Ronald J. A. Peroxisomes in human health and disease: metabolic pathways, metabolite transport, interplay with other organelles and signal transduction Sub-cellular biochemistry 2013;69:23-44 [PubMed]
• de Ru Minke H., van der Tol Linda, van Vlies Naomi, Bigger Brian W., Hollak Carla E. M., Ijlst Lodewijk, Kulik Wim, van Lenthe Henk, Saif Muhammad A., Wagemans Tom, van der Wal Willem M., Wanders Ronald J., Wijburg Frits A. Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans Journal of inherited metabolic disease 2013;36 (2):247-255 [PubMed]
• Segers Karin, Pierquin Genevieve, Gaillez Stephanie, Delbecque Katty, Retz Maria, Tebache Malek, Waterham Hans, Wanders Ronald, Ferdinandusse Sacha, Debray François-Guillaume Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses Prenatal diagnosis 2013;33 (2):201-203 [PubMed]
• Hoen Wendela P., Lijmer Jeroen G., Duran Marinus, Wanders Ronald J. A., van Beveren Nico J. M., de Haan Lieuwe Red blood cell polyunsaturated fatty acids measured in red blood cells and schizophrenia: a meta-analysis Psychiatry research 2013;207 (1-2):1-12 [PubMed]
• Huffnagel Irene C., Clur Sally-Ann B., Bams-Mengerink Annemieke M., Blom Nico A., Wanders Ronald J. A., Waterham Hans R., Poll-The Bwee Tien Rhizomelic chondrodysplasia punctata and cardiac pathology Journal of medical genetics 2013;50 (7):419-424 [PubMed]
• van Kuilenburg A. B. P., Ferdinandusse S., Wanders R. J. A. Screening for dihydropyrimidine dehydrogenase deficiency to prevent severe 5-fluorouracil and capeciatbine-associated toxicity Nederlands tijdschrift voor klinische chemie en laboratoriumgeneeskunde 2013;38:202-205
• Van Kuilenburg A. B.P., Ferdinandusse S., Wanders R. J.A. Screening for dihydropyrimidine dehydrogenase deficiency to prevent severe 5-fluorouracil and capecitabine-associated toxicity Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde 2013;38 (4):202-205
• Violante Sara, Ijlst Lodewijk, Ruiter Jos, Koster Janet, van Lenthe Henk, Duran Marinus, de Almeida Isabel Tavares, Wanders Ronald J. A., Houten Sander M., Ventura Fátima V. Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2013;1832 (6):773-779 [PubMed]
• Gronemeyer Thomas, Wiese Sebastian, Ofman Rob, Bunse Christian, Pawlas Magdalena, Hayen Heiko, Eisenacher Martin, Stephan Christian, Meyer Helmut E., Waterham Hans R., Erdmann Ralf, Wanders Ronald J., Warscheid Bettina The proteome of human liver peroxisomes: identification of five new peroxisomal constituents by a label-free quantitative proteomics survey PLoS ONE 2013;8 (2):e57395 [PubMed]
• Lefevre Sophie D., van Roermund Carlo W., Wanders Ronald J. A., Veenhuis Marten, van der Klei Ida J. The significance of peroxisome function in chronological aging of Saccharomyces cerevisiae Aging cell 2013;12 (5):784-793 [PubMed]

2012

• Celestino-Soper Patrícia B. S., Violante Sara, Crawford Emily L., Luo Rui, Lionel Anath C., Delaby Elsa, Cai Guiqing, Sadikovic Bekim, Lee Kwanghyuk, Lo Charlene, Gao Kun, Person Richard E., Moss Timothy J., German Jennifer R., Huang Ni, Shinawi Marwan, Treadwell-Deering Diane, Szatmari Peter, Roberts Wendy, Fernandez Bridget, Schroer Richard J., Stevenson Roger E., Buxbaum Joseph D., Betancur Catalina, Scherer Stephen W., Sanders Stephan J., Geschwind Daniel H., Sutcliffe James S., Hurles Matthew E., Wanders Ronald J. A., Shaw Chad A., Leal Suzanne M., Cook Edwin H., Goin-Kochel Robin P., Vaz Frédéric M., Beaudet Arthur L. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism Proceedings of the National Academy of Sciences of the United States of America 2012;109 (21):7974-7981 [PubMed]
• Ebberink Merel S., Koster Janet, Visser Gepke, van Spronsen Francjan, Stolte-Dijkstra Irene, Smit G. Peter A., Fock Johanna M., Kemp Stephan, Wanders Ronald J. A., Waterham Hans R. A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11 beta gene Journal of medical genetics 2012;49 (5):307-313 [PubMed]
• Engelen Marc, Tran Luc, Ofman Rob, Brennecke Josephine, Moser Ann B., Dijkstra Inge M. E., Wanders Ronald J. A., Poll-The Bwee Tien, Kemp Stephan Bezafibrate for X-Linked Adrenoleukodystrophy PLoS ONE 2012;7 (7):e41013 [PubMed]
• Engelen Marc, Schackmann Martin J. A., Ofman Rob, Sanders Robert-Jan, Dijkstra Inge M. E., Houten Sander M., Fourcade Stéphane, Pujol Aurora, Poll-The Bwee Tien, Wanders Ronald J. A., Kemp Stephan Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation Journal of inherited metabolic disease 2012;35 (6):1137-1145 [PubMed]
• Soeters Maarten R., Serlie Mireille J., Sauerwein Hans P., Duran Marinus, Ruiter Jos P., Kulik Willem, Ackermans Mariëtte T., Minkler Paul E., Hoppel Charles L., Wanders Ronald J. A., Houten Sander M. Characterization of D-3-hydroxybutyrylcarnitine (ketocarnitine): an identified ketosis-induced metabolite Metabolism: clinical and experimental 2012;61 (7):966-973 [PubMed]
• Dercksen M., Duran M., IJlst L., Mienie L. J., Reinecke C. J., Ruiter J. P. N., Waterham H. R., Wanders R. J. A. Clinical variability of isovaleric acidemia in a genetically homogeneous population Journal of inherited metabolic disease 2012;35 (6):1021-1029 [PubMed]
• Wiese Sebastian, Gronemeyer Thomas, Brites Pedro, Ofman Rob, Bunse Christian, Renz Christian, Meyer Helmut E., Wanders Ronald J. A., Warscheid Bettina Comparative profiling of the peroxisomal proteome of wildtype and Pex7 knockout mice by quantitative mass spectrometry INTERNATIONAL JOURNAL OF MASS SPECTROMETRY 2012;312:30-40
• Kanzawa Noriyuki, Shimozawa Nobuyuki, Wanders Ronald J. A., Ikeda Kazutaka, Murakami Yoshiko, Waterham Hans R., Mukai Satoru, Fujita Morihisa, Maeda Yusuke, Taguchi Ryo, Fujiki Yukio, Kinoshita Taroh Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata Journal of lipid research 2012;53 (4):653-663 [PubMed]
• Wanders Ronald J. A., Duran Marinus, Loupatty Ference J. Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway Journal of inherited metabolic disease 2012;35 (1):5-12 [PubMed]
• van Weeghel Michel, te Brinke Heleen, van Lenthe Henk, Kulik Wim, Minkler Paul E., Stoll Maria S. K., Sass Jörn Oliver, Janssen Uwe, Stoffel Wilhelm, Schwab K. Otfried, Wanders Ronald J. A., Hoppel Charles L., Houten Sander M. Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids FASEB journal 2012;26 (10):4316-4326 [PubMed]
• Farhoud Murtada H., Nijtmans Leo G., Wanders Ronald J. A., Wessels Hans J. C. T., Lasonder Edwin, Janssen Antoon J. M., Rodenburg Richard R. J., van den Heuvel Lambert P., Smeitink Jan A. M. Impaired ubiquitin-proteasome-mediated PGC-1 alpha protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency Proteomics 2012;12 (9):1349-1362 [PubMed]
• Stobbe Miranda D., Houten Sander M., van Kampen Antoine H. C., Wanders Ronald J. A., Moerland Perry D. Improving the description of metabolic networks: the TCA cycle as example FASEB journal 2012;26 (9):3625-3636 [PubMed]
• Luís Paula B. M., Ruiter Jos P., Ijlst Lodewijk, Diogo Luísa, Garcia Paula, de Almeida Isabel Tavares, Duran Marinus, Wanders Ronald J., Silva Margarida F. B. Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients Journal of inherited metabolic disease 2012;35 (3):443-449 [PubMed]
• Waterham Hans R., Wanders Ronald J. A. Metabolic functions and biogenesis of peroxisomes in health and disease BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2012;1822 (9):1325 [PubMed]
• van der Knaap M. S., Wassmer E., Wolf N. I., Ferreira P., Topçu M., Wanders R. J. A., Waterham H. R., Ferdinandusse S. MRI as diagnostic tool in early-onset peroxisomal disorders Neurology 2012;78 (17):1304-1308 [PubMed]
• Bennett Michael J., Rinaldo Piero, Wilcken Bridget, Pass Kenneth A., Watson Michael S., Wanders Ronald J. A. Newborn screening for metabolic disorders: how are we doing, and where are we going? Clinical chemistry 2012;58 (2):324-331 [PubMed]
• Poll-The Bwee Tien, Aubourg Patrick, Wanders Ronald J. A. Peroxisomal Disorders [Chapter 41]in: Jean-Marie Saudubray, Georges van den Berghe, John H. Walter, editors. Inborn Metabolic Diseases. Diagnosis and Treatment [5th edition]. Berlin Heidelberg New York: Springer-Verlag; 2012. p. 591-605, ISBN 9783642157196
• van Roermund Carlo W. T., Ijlst Lodewijk, Majczak Wiktor, Waterham Hans R., Folkerts Hendrik, Wanders Ronald J. A., Hellingwerf Klaas J. Peroxisomal Fatty Acid Uptake Mechanism in Saccharomyces cerevisiae Journal of biological chemistry 2012;287 (24):20144-20153 [PubMed]
• Houten Sander M., Denis Simone, Argmann Carmen A., Jia Yuzhi, Ferdinandusse Sacha, Reddy Janardan K., Wanders Ronald J. A. Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids Journal of lipid research 2012;53 (7):1296-1303 [PubMed]
• Wanders Ronald J. A., Ferdinandusse Sacha Peroxisomes, Peroxisomal Diseases, and the Hepatotoxicity Induced by Peroxisomal Metabolites Current drug metabolism 2012;13 (10):1401-1411 [PubMed]
• Touw Catharina M. L., Smit G. Peter A., de Vries Maaike, de Klerk Johannis B. C., Bosch Annet M., Visser Gepke, Mulder Margot F., Rubio-Gozalbo M. Estela, Elvers Bert, Niezen-Koning Klary E., Wanders Ronald J. A., Waterham Hans R., Reijngoud Dirk-Jan, Derks Terry G. J. Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study Orphanet journal of rare diseases 2012;7 (1):30 [PubMed]
• Galoin-Bertail C., Ogier de Baulny H., Wanders R., Schiff M., Bellavoine V., Mlika A., Benoist G., Baruteau J. Sjogren-Larsson syndrome: 2 case reports Archives de pediatrie 2012;19 (2):135-141 [PubMed]
• Fuijkschot Joris, Theelen Thomas, Seyger Marieke M. B., van der Graaf Marinette, de Groot Imelda J. M., Wevers Ron A., Wanders Ronald J. A., Waterham Hans R., Willemsen Michèl A. A. P. Sjogren-Larsson syndrome in clinical practice Journal of inherited metabolic disease 2012;35 (6):955-962 [PubMed]
• Sarret Catherine, Rigal Mélanie, Vaurs-Barrière Catherine, Dorboz Imen, Eymard-Pierre Eléonore, Combes Patricia, Giraud Geneviève, Wanders Ronald J. A., Afenjar Alexandra, Francannet Christine, Boespflug-Tanguy Odile Sjogren-Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort Journal of the neurological sciences 2012;312 (1-2):123-126 [PubMed]
• McMillan Hugh J., Worthylake Thea, Schwartzentruber Jeremy, Gottlieb Chloe C., Lawrence Sarah E., Mackenzie Alex, Beaulieu Chandree L., Mooyer Petra A., Wanders Ronald J., Majewski Jacek, Bulman Dennis E., Geraghty Michael T., Ferdinandusse Sacha, Boycott Kym M. Specific combination of compound heterozygous mutations in 17beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency Orphanet journal of rare diseases 2012;7 (1):90 [PubMed]
• Keller Markus A., Watschinger Katrin, Lange Karsten, Golderer Georg, Werner-Felmayer Gabriele, Hermetter Albin, Wanders Ronald J. A., Werner Ernst R. Studying fatty aldehyde metabolism in living cells with pyrene-labeled compounds Journal of lipid research 2012;53 (7):1410-1416 [PubMed]
• Bosch Annet M., Stroek Kevin, Abeling Nico G., Waterham Hans R., Ijlst Lodewijk, Wanders Ronald J. A. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives Orphanet journal of rare diseases 2012;7 (1):83 [PubMed]
• El Hajj H. I., Vluggens A., Andreoletti P., Ragot K., Mandard S., Kersten S., Waterham H. R., Lizard G., Wanders R. J. A., Reddy J. K., Cherkaoui-Malki Mustapha The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy) Endocrinology 2012;153 (6):2568-2575 [PubMed]
• Engelen Marc, Kemp Stephan, de Visser Marianne, van Geel Björn M., Wanders Ronald J. A., Aubourg Patrick, Poll-The Bwee Tien X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management: Clinical presentation and guidelines for diagnosis, follow-up and management Orphanet journal of rare diseases 2012;7 (1) [PubMed]
• Mignarri Andrea, Vinciguerra Claudia, Giorgio Antonio, Ferdinandusse Sacha, Waterham Hans, Wanders Ronald, Bertini Enrico, Dotti Maria Teresa, Federico Antonio Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations JIMD reports 2012;6:43-46 [PubMed]

2011

• Ghirri Paolo, Vuerich Marco, Ferdinandusse Sacha, Waterham Hans R., Guzzetta Andrea, Bianchi Maria C., Boldrini Antonio, Wanders Ronald J. A. A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations Pediatrics international 2011;53 (4):583-587 [PubMed]
• Brites Pedro, Ferreira Ana Sofia, da Silva Tiago Ferreira, Sousa Vera F., Malheiro Ana R., Duran Marinus, Waterham Hans R., Baes Myriam, Wanders Ronald J. A. Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice PLoS ONE 2011;6 (12):e28539 [PubMed]
• Fidaleo Marco, Arnauld Ségolène, Clémencet Marie-Claude, Chevillard Grégory, Royer Marie-Charlotte, de Bruycker Melina, Wanders Ronald J. A., Athias Anne, Gresti Joseph, Clouet Pierre, Degrace Pascal, Kersten Sander, Espeel Marc, Latruffe Norbert, Nicolas-Francès Valérie, Mandard Stéphane A role for the peroxisomal 3-ketoacyl-CoA thiolase B enzyme in the control of PPARα-mediated upregulation of SREBP-2 target genes in the liver Biochimie 2011;93 (5):876-891 [PubMed]
• Sevin Caroline, Ferdinandusse Sacha, Waterham Hans R., Wanders Ronald J., Aubourg Patrick Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene Orphanet journal of rare diseases 2011;6 (1):8 [PubMed]
• Farber C. M., Wanders J. A. W., Goffard J. C., Parma J. A woman with recurrent "infections" since birth--a new mevalonate kinase mutation Acta clinica Belgica 2011;66 (2):129-131 [PubMed]
• Bosch Annet M., Abeling Nico G. G. M., Ijlst Lodewijk, Knoester Hennie, van der Pol W. Ludo, Stroomer Alida E. M., Wanders Ronald J., Visser Gepke, Wijburg Frits A., Duran Marinus, Waterham Hans R. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment Journal of inherited metabolic disease 2011;34 (1):159-164 [PubMed]
• Zhang Xuebin, de Marcos Lousa Carine, Schutte-Lensink Nellie, Ofman Rob, Wanders Ronald J., Baldwin Stephen A., Baker Alison, Kemp Stephan, Theodoulou Frederica L. Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression Biochemical journal 2011;436 (3):547-557 [PubMed]
• van Roermund Carlo W. T., Visser Wouter F., Ijlst Lodewijk, Waterham Hans R., Wanders Ronald J. A. Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2011;1811 (3):148-152 [PubMed]
• Wanders Ronald J. A., Komen Jasper, Kemp Stephan Fatty acid omega-oxidation as a rescue pathway for fatty acid oxidation disorders in humans FEBS journal 2011;278 (2):182-194 [PubMed]
• Ebberink Merel S., Mooijer Petra A. W., Gootjes Jeannette, Koster Janet, Wanders Ronald J. A., Waterham Hans R. Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder Human mutation 2011;32 (1):59-69 [PubMed]
• van Maldegem B. T., Kloosterman S. F., Janssen W. J., Augustijn P. B., van der Lee J. H., IJlst L., Waterham H. R., Duran R., Wanders R. J. A., Wijburg F. A. High Prevalence of Short-Chain Acyl-CoA Dehydrogenase Deficiency in the Netherlands, but No Association with Epilepsy of Unknown Origin in Childhood Neuropediatrics 2011;42 (1):13-17 [PubMed]
• Henneman Linda Isoprenoid biosynthesis and mevalonate kinase deficiency 2011. 122p. ISBN 9789461082091. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisor: Waterham H. R.)
• Kemp Stephan, Theodoulou Frederica L., Wanders Ronald J. A. Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance British journal of pharmacology 2011;164 (7):1753-1766 [PubMed]
• Abeling N. G.G.M., Duran M., Bosch A. M., Wanders R. J.A., Wijburg F. A., Waterham H. R. Milde multipele acylCoA dehydrogenase deficiëntie (MADD): De sleutel tot een riboflavine transporter defect als oorzaak van het Brown-Vialetto-Van Laere syndroom, een nieuwe behandelbare erfelijke stofwisselingsziekte Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde 2011;36 (4):226-227
• Aires Cátia C. P., van Cruchten Arno, Ijlst Lodewijk, de Almeida Isabel Tavares, Duran Marinus, Wanders Ronald J. A., Silva Margarida F. B. New insights on the mechanisms of valproate-induced hyperammonemia: inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA Journal of hepatology 2011;55 (2):426-434 [PubMed]
• Kou Jianqiu, Kovacs Gabor G., Höftberger Romana, Kulik Willem, Brodde Alexander, Forss-Petter Sonja, Hönigschnabl Selma, Gleiss Andreas, Brügger Britta, Wanders Ronald, Just Wilhelm, Budka Herbert, Jungwirth Susanne, Fischer Peter, Berger Johannes Peroxisomal alterations in Alzheimer's disease Acta neuropathologica 2011;122 (3):271-283 [PubMed]
• Wanders Ronald J. A., Komen Jasper, Ferdinandusse Sacha Phytanic acid metabolism in health and disease BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2011;1811 (9):498-507 [PubMed]
• van Tienen F. H. J., van der Kallen C. J. H., Lindsey P. J., Wanders R. J., van Greevenbroek M. M., Smeets H. J. M. Preadipocytes of type 2 diabetes subjects display an intrinsic gene expression profile of decreased differentiation capacity International journal of obesity (2005) 2011;35 (9):1154-1164 [PubMed]
• Gerards Mike, van den Bosch Bianca J. C., Danhauser Katharina, Serre Valérie, van Weeghel Michel, Wanders Ronald J. A., Nicolaes Gerry A. F., Sluiter Wim, Schoonderwoerd Kees, Scholte Hans R., Prokisch Holger, Rötig Agnès, de Coo Irenaeus F. M., Smeets Hubert J. M. Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene Brain 2011;134 (Part 1):210-219 [PubMed]
• Luís Paula B. M., Ruiter Jos P. N., Ijlst Lodewijk, Tavares de Almeida Isabel, Duran Marinus, Mohsen Al-Walid, Vockley Jerry, Wanders Ronald J. A., Silva Margarida F. B. Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway Drug metabolism and disposition: the biological fate of chemicals 2011;39 (7):1155-1160 [PubMed]
• Avis Hans J., Hargreaves Ian P., Ruiter Jos P. N., Land John M., Wanders Ronald J., Wijburg Frits A. Rosuvastatin lowers coenzyme Q10 levels, but not mitochondrial adenosine triphosphate synthesis, in children with familial hypercholesterolemia Journal of pediatrics 2011;158 (3):458-462 [PubMed]
• van Maldegem Bianca T. Short-chain acyl-CoA dehydrogenase deficiency 2011. 151p. ISBN 9789090259161. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wijburg F. A., Wanders R. J. A.; Co-supervisor: Waterham H. R.)
• Mendes Luis Paula M. B. Study of the underlying basis for valproate hepatotoxicity: drug metabolism and its interaction with coenzyme 2011. 138p. [UvA Dissertations Online] Universidade de Lisboa: Faculdade de Farmacia. (Supervisor: Fernandes Baptista e Silva Margarida Maria; Co-supervisors: Wanders R. J. A., Duran Marinus)
• de Vogel-van den Bosch Johan, Hoeks Joris, Timmers Silvie, Houten Sander M., van Dijk Paul J., Boon Wendy, van Beurden Denis, Schaart Gert, Kersten Sander, Voshol Peter J., Wanders Ronald J. A., Hesselink Matthijs K., Schrauwen Patrick The Effects of Long- or Medium-Chain Fat Diets on Glucose Tolerance and Myocellular Content of Lipid Intermediates in Rats Obesity (Silver Spring, Md.) 2011;19 (4):792-799 [PubMed]
• Schmidt Stinne P., Corydon Thomas J., Pedersen Christina B., Vang Søren, Palmfeldt Johan, Stenbroen Vibeke, Wanders Ronald J. A., Ruiter Jos P. N., Gregersen Niels Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase Journal of inherited metabolic disease 2011;34 (2):465-475 [PubMed]
• Luís Paula B. M., Ruiter Jos P., Ofman Rob, Ijlst Lodewijk, Moedas Marco, Diogo Luísa, Garcia Paula, de Almeida Isabel Tavares, Duran Marinus, Wanders Ronald J., Silva Margarida F. B. Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation Biochemical pharmacology 2011;82 (11):1740-1746 [PubMed]
• Engelen Marc, van der Kooi Anneke J., Kemp Stephan, Wanders Ronald J. A., Sistermans Erik A., Waterham Hans R., Koelman Johannes T. M., van Geel Björn M., de Visser Marianne X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy Journal of the peripheral nervous system 2011;16 (4):353-355 [PubMed]

2010

• Wortmann S. B., Kremer B. H., Graham A., Willemsen M. A., Loupatty F. J., Hogg S. L., Engelke U. F., Kluijtmans L. A., Wanders R. J., Illsinger S., Wilcken B., Cruysberg J. R., Das A. M., Morava E., Wevers R. A. 3-Methylglutaconic aciduria type I redefined A syndrome with late-onset leukoencephalopathy Neurology 2010;75 (12):1079-1083 [PubMed]
• Fukao Toshiyuki, Nguyen Hoan Thi, Nguyen Nhan Thu, Vu Dung Chi, Can Ngoc Thi Bich, Pham Anh Thi Van, Nguyen Khanh Ngoc, Kobayashi Hironori, Hasegawa Yuki, Bui Thao Phuong, Niezen-Koning Kary E., Wanders Ronald J. A., de Koning Tom, Nguyen Liem Thanh, Yamaguchi Seiji, Kondo Naomi A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency Molecular genetics and metabolism 2010;100 (1):37-41 [PubMed]
• Nouws Jessica, Nijtmans Leo, Houten Sander M., van den Brand Mariël, Huynen Martijn, Venselaar Hanka, Hoefs Saskia, Gloerich Jolein, Kronick Jonathan, Hutchin Timothy, Willems Peter, Rodenburg Richard, Wanders Ronald, van den Heuvel Lambert, Smeitink Jan, Vogel Rutger O. Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I Cell metabolism 2010;12 (3):283-294 [PubMed]
• Ferdinandusse Sacha, Barker Simon, Lachlan Katherine, Duran Marinus, Waterham Hans R., Wanders Ronald J. A., Hammans Simon Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy Journal of neurology, neurosurgery, and psychiatry 2010;81 (3):310-312 [PubMed]
• Ruether Klaus, Baldwin Eleanor, Casteels Minne, Feher Michael D., Horn Morten, Kuranoff Susan, Leroy Bart P., Wanders Ronald J., Wierzbicki Anthony S. Adult Refsum Disease: A Form of Tapetoretinal Dystrophy Accessible to Therapy Survey of ophthalmology 2010;55 (6):531-538 [PubMed]
• Houten Sander Michel, Wanders Ronald J. A. A general introduction to the biochemistry of mitochondrial fatty acid beta-oxidation Journal of inherited metabolic disease 2010;33 (5):469-477 [PubMed]
• Mohamed Sarar, El-Meleagy Ebtisam, Nasr Abdelhaleem, Ebberink Merel S., Wanders Ronald J. A., Waterham Hans R. A Mutation in PEX19 Causes a Severe Clinical Phenotype in a Patient With Peroxisomal Biogenesis Disorder American journal of medical genetics. Part A 2010;152A (9):2318-2321 [PubMed]
• Rauschenberger Katharina, Schöler Katja, Sass Jörn Oliver, Sauer Sven, Djuric Zdenka, Rumig Cordula, Wolf Nicole I., Okun Jürgen G., Kölker Stefan, Schwarz Heinz, Fischer Christine, Grziwa Beate, Runz Heiko, Nümann Astrid, Shafqat Naeem, Kavanagh Kathryn L., Hämmerling Günter, Wanders Ronald J. A., Shield Julian P. H., Wendel Udo, Stern David, Nawroth Peter, Hoffmann Georg F., Bartram Claus R., Arnold Bernd, Bierhaus Angelika, Oppermann Udo, Steinbeisser Herbert, Zschocke Johannes A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival EMBO molecular medicine 2010;2 (2):51-62 [PubMed]
• Dessein Anne-Frederique, Fontaine Monique, Andresen Brage S., Gregersen Niels, Brivet Michele, Rabier Daniel, Napuri-Gouel Silvia, Dobbelaere Dries, Mention-Mulliez Karine, Martin-Ponthieu Annie, Briand Gilbert, Millington David S., Vianey-Saban Christine, Wanders Ronald J. A., Vamecq Joseph A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report Orphanet journal of rare diseases 2010;5 (1):26 [PubMed]
• Pedersen Christina B., Zolkipli Zarazuela, Vang Søren, Palmfeldt Johan, Kjeldsen Margrethe, Stenbroen Vibeke, Schmidt Stinne P., Wanders Ronald J. A., Ruiter Jos P. N., Wibrand Flemming, Tein Ingrid, Gregersen Niels Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria Journal of inherited metabolic disease 2010;33 (3):211-222 [PubMed]
• Steward C. G., Newbury-Ecob R. A., Hastings R., Smithson S. F., Tsai-Goodman B., Quarrell O. W., Kulik W., Wanders R., Pennock M., Williams M., Cresswell J. L., Gonzalez I. L., Brennan P. Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth Prenatal diagnosis 2010;30 (10):970-976 [PubMed]
• Aires Cátia C. P. Biochemical and molecular targets of dysfunction on fatty acid transport and mitochondrial oxidation induced by steratogenic drugsLissabon: 2010. 185p. [UvA Dissertations Online] Universiteit van Lissabon: Faculteit Farmacie. (Supervisor: Silva M. F. B.; Co-supervisors: Wanders R. J. A., Duran Marinus)
• Kemp Stephan, Wanders Ronald Biochemical aspects of x-linked adrenoleukodystrophy Brain pathology (Zurich, Switzerland) 2010;20 (4):831-837 [PubMed]
• Wanders Ronald J. A., Brites Pedro Biosynthesis of ether-phospholipids including plasmalogens, peroxisomes and human disease: new insights into an old problem Clinical lipidology 2010;5 (3):379-386
• Violante Sara, Ijlst Lodewijk, van Lenthe Henk, de Almeida Isabel Tavares, Wanders Ronald J., Ventura Fátima V. Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2010;1802 (9):728-732 [PubMed]
• van Maldegem Bianca T., Wanders Ronald J. A., Wijburg Frits A. Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency Journal of inherited metabolic disease 2010;33 (5):507-511 [PubMed]
• Strijbis Karin, van Roermund Carlo W., van den Burg Janny, van den Berg Marlene, Hardy Guy P. M., Wanders Ronald J., Distel Ben Contributions of Carnitine Acetyltransferases to Intracellular Acetyl Unit Transport in Candida albicans Journal of biological chemistry 2010;285 (32):24335-24346 [PubMed]
• Wanders R. J. A., Poorthuis B. J. H. M., Rodenburg R. J. T. Enzymes, metabolic pathways, flux control analysis and the enzymology of specific groups of inherited metabolic diseasesin: G. F. Hoffmann, J. Zschocke, W. L. Nyhan, editors. Inherited Metabolic Diseases. Springer-Verlag Berlin Heidelberg: Springer Heidelberg Dordrecht London New York; 2010. p. 283-303, ISBN 9783540747222
• van der Kolk J. H., Wijnberg I. D., Westermann C. M., Dorland L., de Sain-van der Velden M. G. M., Kranenburg L. C., Duran M., Dijkstra J. A., van der Lugt J. J., Wanders R. J. A., Gruys E. Equine acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in 14 horses associated with ingestion of Maple leaves (Acer pseudoplatanus) covered with European tar spot (Rhytisma acerinum) Molecular genetics and metabolism 2010;101 (2-3):289-291 [PubMed]
• Soeters Maarten R., Huidekoper Hidde H., Duran Marinus, Ackermans Mariëtte T., Endert Erik, Fliers Eric, Wijburg Frits A., Wanders Ronald J., Sauerwein Hans P., Serlie Mireille J. Extended metabolic evaluation of suspected symptomatic hypoglycemia: the prolonged fast and beyond Metabolism: clinical and experimental 2010;59 (11):1543-1550 [PubMed]
• van Maldegem Bianca T., Duran Marinus, Wanders Ronald J. A., Waterham Hans R., de Koning Tom J., Rubio Estela, Wijburg Frits A. Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency Journal of pediatrics 2010;156 (1):121-127 [PubMed]
• van Maldegem Bianca T., Duran Marinus, Wanders Ronald J. A., Waterham Hans R., Wijburg Frits A. Flavin Adenine Dinucleotide Status and the Effects of High-Dose Riboflavin Treatment in Short-Chain Acyl-CoA Dehydrogenase Deficiency Pediatric research 2010;67 (3):304-308 [PubMed]
• Ebberink Merel S., Csanyi Barbara, Chong Wui K., Denis Simone, Sharp Peter, Mooijer Petra A. W., Dekker Conny J. M., Spooner Claire, Ngu Lock H., de Sousa Carlos, Wanders Ronald J. A., Fietz Michael J., Clayton Peter T., Waterham Hans R., Ferdinandusse Sacha Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene Journal of medical genetics 2010;47 (9):608-615 [PubMed]
• van den Broek N. M. A., Ciapaite J., de Feyter H. M. M. L., Houten S. M., Wanders R. J. A., Jeneson J. A. L., Nicolay K., Prompers J. J. Increased mitochondrial content rescues in vivo muscle oxidative capacity in long-term high-fat-diet-fed rats FASEB journal 2010;24 (5):1354-1364 [PubMed]
• Aires Cátia C. P., Ijlst Lodewijk, Stet Femke, Prip-Buus Carina, de Almeida Isabel Tavares, Duran Marinus, Wanders Ronald J. A., Silva Margarida F. B. Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis Biochemical pharmacology 2010;79 (5):792-799 [PubMed]
• Engelen Marc, Ofman Rob, Dijkgraaf Marcel G. W., Hijzen Michiel, van der Wardt Lucinda A., van Geel Bjorn M., de Visser Marianne, Wanders Ronald J. A., Poll-The Bwee Tien, Kemp Stephan Lovastatin in X-Linked Adrenoleukodystrophy New England journal of medicine 2010;362 (3):276-277 [PubMed]
• Ebberink Merel S. Molecular and genetic characterization of peroxisome biogenesis disorders 2010. 128p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisors: Waterham H. R., Ferdinandusse S.)
• Keller Markus A., Watschinger Katrin, Golderer Georg, Maglione Manuel, Sarg Bettina, Lindner Herbert H., Werner-Felmayer Gabriele, Terrinoni Alessandro, Wanders Ronald J. A., Werner Ernst R. Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal Journal of lipid research 2010;51 (6):1554-1559 [PubMed]
• Régal Luc, Ebberink Merel S., Goemans Nathalie, Wanders Ronald J. A., de Meirleir Linda, Jaeken Jacques, Schrooten Maarten, van Coster Rudy, Waterham Hans R. Mutations in PEX10 Are a Cause of Autosomal Recessive Ataxia Annals of neurology 2010;68 (2):259-263 [PubMed]
• Khan Aneal, Wei Xing-Chang, Snyder Floyd F., Mah Jean K., Waterham Hans, Wanders Ronald J. A. Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging Neuroradiology 2010;52 (12):1163-1166 [PubMed]
• Wanders R. J. A., Ferdinandusse S., Brites P., Kemp S. Peroxisomes, lipid metabolism and lipotoxicity BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2010;1801 (3):272-280 [PubMed]
• Wanders Ronald J. A. Prenatal diagnosis of the peroxisomal and mitochondrial fatty acid oxidation deficienciesin: Aubrey Milunsky, Jeff M. Milunski, editors. Genetic Disorders and the Fetus. Diagnosis, Prevention and Treatment. Boston: Wiley-Blackwell; 2010. p. 489-494, ISBN 9781405190879
• Zutt R., van der Kooi A. J., Linthorst G. E., Wanders R. J. A., Verschuuren J. J. G. M., de Visser M. Recidiverende rabdomyolyse: zoek naar de onderliggende aandoening Nederlands tijdschrift voor geneeskunde 2010;154 (43):A2290 [PubMed]
• Kapina V., Sedel F., Truffert A., Horvath J., Wanders R. J. A., Waterham H. R., Picard F. RELAPSING RHABDOMYOLYSIS DUE TO PEROXISOMAL alpha-METHYLACYL-COA RACEMASE DEFICIENCY Neurology 2010;75 (14):1300-1302 [PubMed]
• Vluggens Aurore, Andreoletti Pierre, Viswakarma Navin, Jia Yuzhi, Matsumoto Kojiro, Kulik Wim, Khan Mushfiquddin, Huang Jiansheng, Guo Dongsheng, Yu Sangtao, Sarkar Joy, Singh Inderjit, Rao M. Sambasiva, Wanders Ronald J., Reddy Janardan K., Cherkaoui-Malki Mustapha Reversal of mouse Acyl-CoA oxidase 1 (ACOX1) null phenotype by human ACOX1b isoform [corrected] Laboratory investigation; a journal of technical methods and pathology 2010;90 (5):696-708 [PubMed]
• Ebberink Merel S., Kofster Janet, Wanders Ronald J. A., Waterham Hans R. Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients Human mutation 2010;31 (1):E1058-E1070 [PubMed]
• van Hove Johan L. K., Saenz Margarita S., Thomas Janet A., Gallagher Renata C., Lovell Mark A., Fenton Laura Z., Shanske Sarah, Myers Sommer M., Wanders Ronald J. A., Ruiter Jos, Turkenburg Marjolein, Waterham Hans R. Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy Pediatric research 2010;68 (2):159-164 [PubMed]
• Nyathi Yvonne, de Marcos Lousa Carine, van Roermund Carlo W., Wanders Ronald J. A., Johnson Barbara, Baldwin Stephen A., Theodoulou Frederica L., Baker Alison The Arabidopsis peroxisomal ABC transporter, comatose, complements the Saccharomyces cerevisiae pxa1 pxa2& [delta] mutant for metabolism of long chain fatty acids and exhibits fatty acyl-coa stimulated atpase activity Journal of biological chemistry 2010;285 (39):29892-29902 [PubMed]
• Wanders Ronald J. A., Ruiter Jos P. N., Ijlst Lodewijk, Waterham Hans R., Houten Sander M. The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results Journal of inherited metabolic disease 2010;33 (5):479-494 [PubMed]
• Ofman Rob, Dijkstra Inge M. E., van Roermund Carlo W. T., Burger Nena, Turkenburg Marjolein, van Cruchten Arno, van Engen Catherine E., Wanders Ronald J. A., Kemp Stephan The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy EMBO molecular medicine 2010;2 (3):90-97 [PubMed]
• Houtkooper Riekelt H., Cantó Carles, Wanders Ronald J., Auwerx Johan The Secret Life of NAD(+): An Old Metabolite Controlling New Metabolic Signaling Pathways Endocrine reviews 2010;31 (2):194-223 [PubMed]
• Grønborg Sabine, Krätzner Ralph, Spiegler Juliane, Ferdinandusse Sacha, Wanders Ronald J. A., Waterham Hans R., Gärtner Jutta Typical cMRI Pattern as Diagnostic Clue for D-Bifunctional Protein Deficiency Without Apparent Biochemical Abnormalities in Plasma American journal of medical genetics. Part A 2010;152A (11):2845-2849 [PubMed]
• Fourcade Stéphane, Ruiz Montserrat, Guilera Cristina, Hahnen Eric, Brichta Lars, Naudi Alba, Portero-Otín Manuel, Dacremont Georges, Cartier Nathalie, Wanders Ronald, Kemp Stephan, Mandel Jean Louis, Wirth Brunhilde, Pamplona Reinald, Aubourg Patrick, Pujol Aurora Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy Human molecular genetics 2010;19 (10):2005-2014 [PubMed]

2009

• Fourcade Stéphane, Ruiz Montserrat, Camps Carme, Schlüter Agatha, Houten Sander M., Mooyer Petra A. W., Pàmpols Teresa, Dacremont Georges, Wanders Ronald J. A., Giròs Marisa, Pujol Aurora A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis American journal of physiology. Endocrinology and metabolism 2009;296 (1):E211-E221 [PubMed]
• Hantke Janina, Chandler David, King Rosalind, Wanders Ronald J. A., Angelicheva Dora, Tournev Ivailo, McNamara Elyshia, Kwa Marcel, Guergueltcheva Velina, Kaneva Radka, Baas Frank, Kalaydjieva Luba A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR) European journal of human genetics 2009;17 (12):1606-1614 [PubMed]
• Fiskerstrand T., Knappskog P., Majewski J., Wanders R. J., Boman H., Bindoff L. A. A novel Refsum-like disorder that maps to chromosome 20 Neurology 2009;72 (1):20-27 [PubMed]
• Ferdinandusse Sacha, Wanders Ronald J. A. Bile acid abnormalities in peroxisomal disordersin: Adolf Stiehl, Michael Trauner, Ulrich Beuers, D. Keppler, editors. Bile acid biology and therapeutic actions. Dordrecht: Springer; 2009. p. 243-252
• Ferdinandusse Sacha, Denis Simone, Faust Phyllis L., Wanders Ronald J. A. Bile acids: the role of peroxisomes Journal of lipid research 2009;50 (11):2139-2147 [PubMed]
• Houtkooper Riekelt H., Rodenburg Richard J., Thiels Charlotte, van Lenthe Henk, Stet Femke, Poll-The Bwee Tien, Stone Janet E., Steward Colin G., Wanders Ronald J., Smeitink Jan, Kulik Willem, Vaz Frédéric M. Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome Analytical biochemistry 2009;387 (2):230-237 [PubMed]
• Houtkooper R. H. L. Cardiolipin metabolism in Barth syndrome 2009. 122p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisor: Vaz F. M.)
• Soeters Maarten R., Sauerwein Hans P., Faas Linda, Smeenge Martijn, Duran Marinus, Wanders Ronald J., Ruiter An F., Ackermans Mariëtte T., Fliers Eric, Houten Sander M., Serlie Mireille J. Effects of insulin on ketogenesis following fasting in lean and obese men Obesity (Silver Spring, Md.) 2009;17 (7):1326-1331 [PubMed]
• Sanders Robert-Jan, Ofman Rob, Dekker Conny, Kemp Stephan, Wanders Ronald J. A. Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2009;877 (4):451-455 [PubMed]
• Nijland Roel, Hartog Francis E., Wevers Ron A., Wanders Ronald J. A., Willemsen Wim N. P. Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients Journal of pediatric and adolescent gynecology 2009;22 (4):229-231 [PubMed]
• Ebberink Merel S., Mooyer Petra A. W., Koster Janet, Dekker Conny J. M., Eyskens François J. M., Dionisi-Vici Carlo, Clayton Peter T., Barth Peter G., Wanders Ronald J. A., Waterham Hans R. Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines Human mutation 2009;30 (1):93-98 [PubMed]
• Houtkooper Riekelt H., van Lenthe Henk, Stet Femke S., Wanders Ronald J. A., Kulik Wim, Vaz Frederic M. HPLC-massaspectrometrie voor de diagnose van het Barth-syndroom Analyse (Amsterdam) 2009;64 (7):200-205
• Strijbis Karin, van Roermund Carlo W. T., Hardy Guy P., van den Burg Janny, Bloem Karien, de Haan Jolanda, van Vlies Naomi, Wanders Ronald J. A., Vaz Frédéric M., Distel Ben Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicans FASEB journal 2009;23 (8):2349-2359 [PubMed]
• Wanders R. J. A. Inborn Errors of Peroxisome Biogenesis and Functionin: Kyriakie Sarafoglou, G. F. Hoffmann, K. S. Roth, editors. Pediatric Endocrinology and Inborn Errors of Metabolism. New York e.a.: The McGrawHill Companies; 2009. p. 323-337, ISBN 9780071439152
• Chegary Malika, Brinke Heleen te, Ruiter Jos P. N., Wijburg Frits A., Stoll Maria S. K., Minkler Paul E., van Weeghel Michel, Schulz Horst, Hoppel Charles L., Wanders Ronald J. A., Houten Sander M. Mitochondrial long chain fatty acid beta-oxidation in man and mouse BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2009;1791 (8):806-815 [PubMed]
• Scheuerman Oded, Wanders Ronald J. A., Waterham Hans R., Dubnov-Raz Gal, Garty Ben-Zion Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis Pediatric neurology 2009;40 (6):465-467 [PubMed]
• Arnauld Ségolène, Fidaleo Marco, Clémencet Marie-Claude, Chevillard Grégory, Athias Anne, Gresti Joseph, Wanders Ronald J., Latruffe Norbert, Nicolas-Francès Valérie, Mandard Stéphane Modulation of the hepatic fatty acid pool in peroxisomal 3-ketoacyl-CoA thiolase B-null mice exposed to the selective PPARalpha agonist Wy14,643 Biochimie 2009;91 (11-12):1376-1386 [PubMed]
• Soeters Maarten R., Sauerwein Hans P., Duran Marinus, Wanders Ronald J., Ackermans Mariëtte T., Fliers Eric, Houten Sander M., Serlie Mireille J. Muscle acylcarnitines during short-term fasting in lean healthy men Clinical science (London, England 2009;116 (7):585-592 [PubMed]
• Law Lap-Kay, Tang Nelson L. S., Hui Joannie, Fung Simon L. M., Ruiter Jos, Wanders Ronald J. A., Fok Tai-Fai, Lam Christopher W. K. Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency Clinica chimica acta; international journal of clinical chemistry 2009;404 (2):95-99 [PubMed]
• Chegary Malika Pathophysiology of mitochondrial fatty acid oxidation 2009. 130p. ISBN 9789090243641. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wijburg F. A., Wanders R. J. A.; Co-supervisor: Houten S. M.)
• Brites Pedro, Mooyer Petra A. W., El Mrabet Leila, Waterham Hans R., Wanders Ronald J. A. Plasmalogens participate in very-long-chain fatty acid-induced pathology Brain 2009;132 (Part 2):482-492 [PubMed]
• Houten S. M., Chegary M., te Brinke H., Wijnen W. J., Glatz J. F. C., Luiken J. J. F. P., Wijburg F. A., Wanders R. J. A. Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids Cellular and molecular life sciences 2009;66 (7):1283-1294 [PubMed]
• Sanders Robert-Jan Studies on the omega-oxidation of very long-chain fatty acids in relation to X-linked adrenoleukodystrophy 2009. 134p. ISBN 9789088910937. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisor: Kemp S.)
• Houtkooper Riekelt H., Turkenburg Marjolein, Poll-The Bwee Tien, Karall Daniela, Pérez-Cerdá Celia, Morrone Amelia, Malvagia Sabrina, Wanders Ronald J., Kulik Willem, Vaz Frédéric M. The enigmatic role of tafazzin in cardiolipin metabolism BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES 2009;1788 (10):2003-2014 [PubMed]
• Brites Pedro M. T. The mouse as a model to understand peroxisomal disorders 2009. 139p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.)
• Greenberg Cheryl R., Dilling Louise A., Thompson G. Robert, Seargeant Lorne E., Haworth James C., Phillips Susan, Chan Alicia, Vallance Hilary D., Waters Paula J., Sinclair Graham, Lillquist Yolanda, Wanders Ronald J. A., Olpin Simon E. The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations Molecular genetics and metabolism 2009;96 (4):201-207 [PubMed]
• Ferdinandusse Sacha, Denis Simone, Dacremont Georges, Wanders Ronald J. A. Toxicity of peroxisomal C27-bile acid intermediates Molecular genetics and metabolism 2009;96 (3):121-128 [PubMed]
• Dursun Ali, Gucer Safak, Ebberink M. S., Yigit Sule, Wanders R. J. A., Waterham H. R. Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails Journal of inherited metabolic disease 2009;32 (Suppl. 1):S345-S348 [PubMed]

2008

• Westermann C. M., Dorland L., Votion D. M., de Sain-van der Velden M. G. M., Wijnberg I. D., Wanders R. J. A., Spliet W. G. M., Testerink N., Berger R., Ruiter J. P. N., van der Kolk J. H. Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy Neuromuscular disorders 2008;18 (5):355-364 [PubMed]
• Ferdinandusse Sacha, Zomer Anna W. M., Komen Jasper C., van den Brink Christina E., Thanos Melissa, Hamers Frank P. T., Wanders Ronald J. A., van der Saag Paul T., Poll-The Bwee Tien, Brites Pedro Ataxia with loss of Purkinje cells in a mouse model for Refsum disease Proceedings of the National Academy of Sciences of the United States of America 2008;105 (46):17712-17717 [PubMed]
• Kulik Willem, van Lenthe Henk, Stet Femke S., Houtkooper Riekelt H., Kemp Helena, Stone Janet E., Steward Colin G., Wanders Ronald J., Vaz Frédéric M. Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome Clinical chemistry 2008;54 (2):371-378 [PubMed]
• Gonzalvez Francois, Schug Zachary T., Houtkooper Riekelt H., Mackenzie Elaine D., Brooks David G., Wanders Ronald J. A., Petit Patrice X., Vaz Frédéric M., Gottlieb Eyal Cardiolipin provides an essential activating platform for caspase-8 on mitochondria Journal of cell biology 2008;183 (4):681-696 [PubMed]
• Illsinger Sabine, Lücke Thomas, Peter Michael, Ruiter Jos P. N., Wanders Ronald J. A., Deschauer Marcus, Handig Ingrid, Wuyts Wim, Das Anibh M. Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening American journal of medical genetics. Part A 2008;146A (22):2925-2928 [PubMed]
• Chegary Malika, te Brinke Heleen, Doolaard Mirjam, Ijlst Lodewijk, Wijburg Frits A., Wanders Ronald J. A., Houten Sander M. Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation Molecular genetics and metabolism 2008;93 (4):403-410 [PubMed]
• Sanders Robert-Jan, Ofman Rob, Dacremont Georges, Wanders Ronald J. A., Kemp Stephan Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids FASEB journal 2008;22 (6):2064-2071 [PubMed]
• Engelen M., Ofman R., Mooijer P. A. W., Poll-The B. T., Wanders R. J. A., Kemp S. Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2008;1781 (3):105-111 [PubMed]
• Kemp Stephan, Valianpour Fredoen, Denis Simone, Ofman Rob, Sanders Robert-Jan, Mooyer Petra, Barth Peter G., Wanders Ronald J. A. Corrigendum to "Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy" (vol 84, pg 144, 2005) Molecular genetics and metabolism 2008;93 (3):350
• van Maldegem B. T., Duran M., Wanders R. J. A., Niezen-Koning K. E., Hogeveen M., IJlst L., Waterham H. R., Wijburg F. A. De vetzuuroxidatiestoornis 'short chain'-acyl-CoA-dehydrogenase- deficiëntie: relatief hoge prevalentie en sterk wisselend fenotype; neonatale screening niet geïndiceerd Nederlands tijdschrift voor geneeskunde 2008;152 (30):1678-1685 [PubMed]
• Mandey Saskia H. L. IL-1beta and mevalonate kinase deficiency 2008. 111p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisors: Waterham H. R., Frenkel Joost)
• de Feyter Henk M., Lenaers Ellen, Houten Sander M., Schrauwen Patrick, Hesselink Matthijs K., Wanders Ronald J. A., Nicolay Klaas, Prompers Jeanine J. Increased intramyocellular lipid content but normal skeletal muscle mitochondrial oxidative capacity throughout the pathogenesis of type 2 diabetes FASEB journal 2008;22 (11):3947-3955 [PubMed]
• Schneiders M. S. Manipulation of isoprenoid biosynthesis in mevalonate kinase deficiency 2008. 122p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisor: Waterham H. R.)
• Derks T. G. J., Boer T. S., van Assen A., Bos T., Ruiter J., Waterham H. R., Niezen-Koning K. E., Wanders R. J. A., Rondeel J. M. M., Loeber J. G., ten Kate L. P., Smit G. P. A., Reijngoud D.-J. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency Journal of inherited metabolic disease 2008;31 (1):88-96 [PubMed]
• Willemsen A. M., Jansen G. A., Komen J. C., van Hooff S., Waterham H. R., Brites P. M. T., Wanders R. J. A., van Kampen A. H. C. Organization and integration of biomedical knowledge with concept maps for key peroxisomal pathways Bioinformatics (Oxford, England) 2008;24 (16):i21-i27 [PubMed]
• Carrozzo Rosalba, Bellini Carlo, Lucioli Simona, Deodato Federica, Cassandrini Denise, Cassanello Michela, Caruso Ubaldo, Rizzo Cristiano, Rizza Teresa, Napolitano Matteo L., Wanders Ronald J. A., Jakobs Cornelis, Bruno Claudio, Santorelli Filippo M., Dionisi-Vici Carlo, Bonioli Eugenio Peroxisomal acyl-CoA-oxidase deficiency: two new cases American journal of medical genetics. Part A 2008;146A (13):1676-1681 [PubMed]
• Duran Marinus, Wanders Ronald J. A. Plasmalogens and Polyunsaturated Fatty Acidin: Nenad Blau, Marinus Duran, Michael K. Gibson, editors. Laboratory Guide to the Methods in Biochemical Genetics. S.l.: Springer; 2008. p. 207-220, ISBN 9783540766971
• Duran M., Wanders R. J. A. Plasmalogens and Polyunsaturated Fatty Acidsin: Nenad Blau, Marinus Duran, Michael K. Gibson, editors. Laboratory Guide to the Methods in Biochemical Genetics. S.l.: Springer; 2008. p. 207-220, ISBN 9783540766971
• van Woerden Christiaan S. Primary hyperoxaluria type 1: clinical, genetic and biochemical studies 2008. 176p. ISBN 9789090232089. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wijburg F. A., Wanders R. J. A.; Co-supervisors: Groothoff J. W., Duran M.)
• Aires Cátia C. P., Soveral Graça, Luís Paula B. M., ten Brink Herman J., de Almeida Isabel Tavares, Duran Marinus, Wanders Ronald J. A., Silva Margarida F. B. Pyruvate uptake is inhibited by valproic acid and metabolites in mitochondrial membranes FEBS letters 2008;582 (23-24):3359-3366 [PubMed]
• Thompson S. A., Calvin J., Hogg S., Ferdinandusse S., Wanders R. J. A., Barker R. A. Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency Journal of neurology, neurosurgery, and psychiatry 2008;79 (4):448-450 [PubMed]
• van Roermund Carlo W. T., Visser Wouter F., Ijlst Lodewijk, van Cruchten Arno, Boek Maxim, Kulik Wim, Waterham Hans R., Wanders Ronald J. A. The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters FASEB journal 2008;22 (12):4201-4208 [PubMed]
• Silva M. F. B., Aires C. C. P., Luis P. B. M., Ruiter J. P. N., IJlst L., Duran M., Wanders R. J. A., Tavares de Almeida I. Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: a review Journal of inherited metabolic disease 2008;31 (2):205-216 [PubMed]
• Wanders R. J. A., Duran M. Very-Long-Chain Fatty Acids and Phytanic Acidin: Nenad Blau, Marinus Duran, Michael K. Gibson, editors. Laboratory Guide to the Methods in Biochemical Genetics. S.l.: Springer; 2008. p. 221-231, ISBN 9783540766971

2007

• Waterham Hans R., Koster Janet, van Roermund Carlo W. T., Mooyer Petra A. W., Wanders Ronald J. A., Leonard James V. A lethal defect of mitochondrial and peroxisomal fission New England journal of medicine 2007;356 (17):1736-1741 [PubMed]
• Aliefendioğlu Didem, Dursun Ali, Coşkun Turgay, Akçören Zuhal, Wanders Ronald J. A., Waterham Hans R. A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings European journal of pediatrics 2007;166 (10):1077-1080 [PubMed]
• van Vlies Naomi, Ruiter Jos P. N., Doolaard Mirjam, Wanders Ronald J. A., Vaz Frédéric M. An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometry Molecular genetics and metabolism 2007;90 (1):24-29 [PubMed]
• Law Lap-Kay, Tang Nelson Leung-Sang, Hui Joannie, Ho Chung-Shun, Ruiter Jos, Fok Tai-Fai, Wanders Ronald J. A., Lam Christopher Wai-Kei A novel functional assay for simultaneous determination of total fatty acid beta-oxidation flux and acylcarnitine profiling in human skin fibroblasts using (2)H(31)-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectrometry Clinica chimica acta; international journal of clinical chemistry 2007;382 (1-2):25-30 [PubMed]
• Zeharia Avraham, Ebberink Merel S., Wanders Ronald J. A., Waterham Hans R., Gutman Alisa, Nissenkorn Andreea, Korman Stanley H. A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C Journal of human genetics 2007;52 (7):599-606 [PubMed]
• Keane Megan H., Overmars Henk, Wikander Thomas M., Ferdinandusse Sacha, Duran Marinus, Wanders Ronald J. A., Faust Phyllis L. Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger mice Hepatology (Baltimore, Md.) 2007;45 (4):982-997 [PubMed]
• Loupatty Ference J. Branched chain amino acids. Facts and defects 2007. 48p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders Ronald J. A.; Co-supervisor: Duran M.)
• Lloyd Matthew D., Boardman Kieren D. E., Smith Andrew, van den Brink Daan M., Wanders Ronald J. A., Threadgill Michael D. Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome Journal of enzyme inhibition and medicinal chemistry 2007;22 (5):584-590 [PubMed]
• Ferdinandusse Sacha, Denis Simone, Hogenhout Eveline M., Koster Janet, van Roermund Carlo W. T., Ijlst Lodewijk, Moser Ann B., Wanders Ronald J. A., Waterham Hans R. Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency Human mutation 2007;28 (9):904-912 [PubMed]
• Buoni Sabrina, Zannolli Raffaella, Waterham Hans, Wanders Ronald, Fois Alberto D-bifunctional protein deficiency associated with drug resistant infantile spasms Brain & development 2007;29 (1):51-54 [PubMed]
• Visser Wouter F., van Roermund Carlo W. T., Ijlst Lodewijk, Waterham Hans R., Wanders Ronald J. A. Demonstration of bile acid transport across the mammalian peroxisomal membrane Biochemical and biophysical research communications 2007;357 (2):335-340 [PubMed]
• Carnell Andrew J., Hale Ian, Denis Simone, Wanders Ronald J. A., Isaacs William B., Wilson Brice A., Ferdinandusse Sacha Design, synthesis, and in vitro testing of alpha-methylacyl-CoA racemase inhibitors Journal of medicinal chemistry 2007;50 (11):2700-2707 [PubMed]
• Westermann C. M., de Sain-van der Velden M. G. M., van der Kolk J. H., Berger R., Wijnberg I. D., Koeman J. P., Wanders R. J. A., Lenstra J. A., Testerink N., Vaandrager A. B., Vianey-Saban C., Acquaviva-Bourdain C., Dorland L. Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis Molecular genetics and metabolism 2007;91 (4):362-369 [PubMed]
• Gobin-Limballe S., Djouadi F., Aubey F., Olpin S., Andresen B. S., Yamaguchi S., Mandel H., Fukao T., Ruiter J. P. N., Wanders R. J. A., McAndrew R., Kim J. J., Bastin J. Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy American journal of human genetics 2007;81 (6):1133-1143 [PubMed]
• Duran M., Abeling N. G. G. M., van Kuilenburg A. B. P., Wanders R. J. A., Waterham H. R. Inborn Errors of Metabolismin: J. van Pelt, D.C.W. Poland, editors. Clinical Chemistry behind the Dykes. Utrecht: Netherlands Society for Clinical Chemistry and Laboratory Medicine (NVKC); 2007. p. 113-126, ISBN 9789076014166
• Ventura Fátima V., Tavares de Almeida Isabel, Wanders Ronald J. A. Inhibition of adenine nucleotide transport in rat liver mitochondria by long-chain acyl-coenzyme A beta-oxidation intermediates Biochemical and biophysical research communications 2007;352 (4):873-878 [PubMed]
• Sakurai Satomi, Fukao Toshiyuki, Haapalainen Antti M., Zhang Gaixiu, Yamada Keitaro, Lilliu Franco, Yano Shoji, Robinson Peter, Gibson Michael K., Wanders Ronald J. A., Mitchell Grant A., Wierenga Rik K., Kondo Naomi Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure Molecular genetics and metabolism 2007;90 (4):370-378 [PubMed]
• Gloerich J., van den Brink D. M., Ruiter J. P. N., van Vlies N., Vaz F. M., Wanders R. J. A., Ferdinandusse S. Metabolism of phytol to phytanic acid in the mouse, and the role of PPARalpha in its regulation Journal of lipid research 2007;48 (1):77-85 [PubMed]
• Visser Wouter F., van Roermund Carlo W. T., Ijlst Lodewijk, Waterham Hans R., Wanders Ronald J. A. Metabolite transport across the peroxisomal membrane Biochemical journal 2007;401 (2):365-375 [PubMed]
• Oeij N., IJlst L., Ruiter J. P. N., Boer K., Attie-Bitach T., Wanders R. J. A., Wijburg F. A. Mitochondrial Fatty Acid Oxidation and Carnitine Biosynthesis in the Human Fetal-Placental Unit Pediatric clinics Amsterdam 2007;18 (1):18-20
• Loupatty Ference J., Clayton Peter T., Ruiter Jos P. N., Ofman Rob, Ijlst Lodewijk, Brown Garry K., Thorburn David R., Harris Robert A., Duran Marinus, Desousa Carlos, Krywawych Steve, Heales Simon J. R., Wanders Ronald J. A. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration American journal of human genetics 2007;80 (1):195-199 [PubMed]
• Komen J. C. New insights in phytanic acid metabolism and toxicity 2007. 122p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders Ronald J. A.; Co-supervisor: Ferdinandusse Sacha)
• van Vlies N. New insights in the biosynthesis and metabolism of cartine 2007. 104p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders Ronald J. A.; Co-supervisor: Vaz F. M.)
• Law L. K., Tang N. L. S., Lam C. W. K., Tong Matthew K. H., Mak Tony W. L., Zhang W. M., Wanders Ronald J. A. Novel missense mutations in the first Chinese patient with very-long-chain acyl-CoA dehydrogenase deficiency Clinica chimica acta; international journal of clinical chemistry 2007;375 (1-2):173-174 [PubMed]
• Schlüter Agatha, Fourcade Stéphane, Domènech-Estévez Enric, Gabaldón Toni, Huerta-Cepas Jaime, Berthommier Guillaume, Ripp Raymond, Wanders Ronald J. A., Poch Olivier, Pujol Aurora PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease Nucleic acids research 2007;35 (Database issue):D815-D822 [PubMed]
• Wanders R. J. A., Komen J. C. Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid Biochemical Society transactions 2007;35 (Part 5):865-869 [PubMed]
• Horn M. A., van den Brink D. M., Wanders R. J. A., Duran M., Poll-The B. T., Tallaksen C. M. E., Stokke O. H., Moser H., Skjeldal O. H. Phenotype of adult Refsum disease due to a defect in peroxin 7 Neurology 2007;68 (9):698-700 [PubMed]
• Komen J. C., Distelmaier F., Koopman W. J. H., Wanders R. J. A., Smeitink J., Willems P. H. M. G. Phytanic acid impairs mitochondrial respiration through protonophoric action Cellular and molecular life sciences 2007;64 (24):3271-3281 [PubMed]
• van Vlies Naomi, Ferdinandusse Sacha, Turkenburg Marjolein, Wanders Ronald J. A., Vaz Frédéric M. PPAR alpha-activation results in enhanced carnitine biosynthesis and OCTN2-mediated hepatic carnitine accumulation BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS 2007;1767 (9):1134-1142 [PubMed]
• Geven W. B., Niezen-Koning K. E., Timmer A., van Loon A. J., Wanders R. J. A., van Spronsen F. J. Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency BJOG 2007;114 (8):1028-1030 [PubMed]
• van Woerden Christiaan S., Groothoff Jaap W., Wijburg Frits A., Waterham Hans R., Wanders Ronald J. A., Janssen Marcel J. W., Duran Marinus Primary hyperoxaluria remains undiagnosed in patients with hyperoxaluria and recurrent urolithiasis Clinical chemistry 2007;53 (8):1553-1555 [PubMed]
• Wiese Sebastian, Gronemeyer Thomas, Ofman Rob, Kunze Markus, Grou Cláudia P., Almeida José A., Eisenacher Martin, Stephan Christian, Hayen Heiko, Schollenberger Lukas, Korosec Thomas, Waterham Hans R., Schliebs Wolfgang, Erdmann Ralf, Berger Johannes, Meyer Helmut E., Just Wilhelm, Azevedo Jorge E., Wanders Ronald J. A., Warscheid Bettina Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling Molecular & cellular proteomics 2007;6 (12):2045-2057 [PubMed]
• Waterham Hans R., Wanders Ronald J. A. Saccharomyces cerevisiae as a tool for human gene function discovery METHODS IN MICROBIOLOGY 2007;36:577-595
• Yamada Keitaro, Fukao Toshiyuki, Zhang Gaixiu, Sakurai Satomi, Ruiter Jos P. N., Wanders Ronald J. A., Kondo Naomi Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene Molecular genetics and metabolism 2007;90 (3):291-297 [PubMed]
• Aires Cátia C. P., Ruiter Jos P. N., Luís Paula B. M., ten Brink Herman J., Ijlst Lodewijk, de Almeida Isabel Tavares, Duran Marinus, Wanders Ronald J. A., Silva Margarida F. B. Studies on the extra-mitochondrial CoA -ester formation of valproic and Delta4 -valproic acids BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2007;1771 (4):533-543 [PubMed]
• van Vlies Naomi, Ofman Rob, Wanders Ronald J. A., Vaz Frédéric M. Submitochondrial localization of 6-N-trimethyllysine dioxygenase - implications for carnitine biosynthesis FEBS journal 2007;274 (22):5845-5851 [PubMed]
• Wanders Ronald J. A., Visser Wouter F., van Roermund Carlo W. T., Kemp Stephan, Waterham Hans R. The peroxisomal ABC transporter family Pflugers Archiv 2007;453 (5):719-734 [PubMed]
• Lenski Claus, Kooy R. Frank, Reyniers Edwin, Loessner Daniela, Wanders Ronald J. A., Winnepenninckx Birgitta, Hellebrand Heide, Engert Stefanie, Schwartz Charles E., Meindl Alfons, Ramser Juliane The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior American journal of human genetics 2007;80 (2):372-377 [PubMed]
• Luís Paula B. M., Ruiter Jos P. N., Aires Cátia C. P., Soveral Graça, de Almeida Isabel Tavares, Duran Marinus, Wanders Ronald J. A., Silva Margarida F. B. Valproic acid metabolites inhibit dihydrolipoyl dehydrogenase activity leading to impaired 2-oxoglutarate-driven oxidative phosphorylation BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS 2007;1767 (9):1126-1133 [PubMed]
• Kemp Stephan, Wanders Ronald J. A. X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment Molecular genetics and metabolism 2007;90 (3):268-276 [PubMed]
• Turner Claire L. S., Bunyan David J., Thomas N. Simon, Mackay Deborah J. G., Jones Huw P., Waterham Hans R., Wanders Ronald J. A., Temple I. Karen Zellweger syndrome resulting from maternal isodisomy of chromosome 1 American journal of medical genetics. Part A 2007;143A (18):2172-2177 [PubMed]

2006

• Oey N. A., Ruiter J. P. N., IJlst L., Attie-Bitach T., Vekemans M., Wanders R. J. A., Wijburg F. A. Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain Biochemical and biophysical research communications 2006;346 (1):33-37 [PubMed]
• Bikker H., Bakker H. D., Abeling N. G. G. M., Poll-The B. T., Kleijer W. J., Rosenblatt D. S., Waterham H. R., Wanders R. J. A., Duran M. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria Human mutation 2006;27 (7):640-643 [PubMed]
• Jansen Gerbert A., Wanders Ronald J. A. Alpha-oxidation BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH 2006;1763 (12):1403-1412 [PubMed]
• Gueugnon Fabien, Volodina Natalia, Taouil Jaoued Et, Lopez Tatiana E., Gondcaille Catherine, Grand Anabelle Sequeira-Le, Mooijer Petra A. W., Kemp Stephan, Wanders Ronald J. A., Savary Stéphane A novel cell model to study the function of the adrenoleukodystrophy-related protein Biochemical and biophysical research communications 2006;341 (1):150-157 [PubMed]
• Gloerich J., IJlst L., Wanders R. J. A., Ferdinandusse S. Bezafibrate induces FALDH in human fibroblasts; implications for Sjögren-Larsson syndrome Molecular genetics and metabolism 2006;89 (1-2):111-115 [PubMed]
• Wanders Ronald J. A., Waterham Hans R. Biochemistry of mammalian peroxisomes revisited Annual review of biochemistry 2006;75:295-332 [PubMed]
• Bunik Victoria I., Raddatz Günter, Wanders Ronald J. A., Reiser Georg Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid FEBS letters 2006;580 (14):3551-3557 [PubMed]
• Liebig M., Gyenes M., Brauers G., Ruiter J. P. N., Wendel U., Mayatepek E., Strauss A. W., Wanders R. J. A., Spiekerkoetter U. Carnitine supplementation induces long-chain acylcarnitine production--studies in the VLCAD-deficient mouse Journal of inherited metabolic disease 2006;29 (2-3):343-344 [PubMed]
• Ferdinandusse Sacha, Denis Simone, Mooyer Petra A. W., Dekker Conny, Duran Marinus, Soorani-Lunsing Roelineke J., Boltshauser Eugen, Macaya Alfons, Gärtner Jutta, Majoie Charles B. L. M., Barth Peter G., Wanders Ronald J. A., Poll-The Bwee Tien Clinical and biochemical spectrum of D-bifunctional protein deficiency Annals of neurology 2006;59 (1):92-104 [PubMed]
• van Maldegem Bianca T., Duran Marinus, Wanders Ronald J. A., Niezen-Koning Klary E., Hogeveen Marije, Ijlst Lodewijk, Waterham Hans R., Wijburg Frits A. Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency JAMA 2006;296 (8):943-952 [PubMed]
• Loupatty Ference J., van der Steen Annemarie, Ijlst Lodewijk, Ruiter Jos P. N., Ofman Rob, Baumgartner Matthias R., Ballhausen Diana, Yamaguchi Seiji, Duran Marinus, Wanders Ronald J. A. Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria Molecular genetics and metabolism 2006;87 (3):243-248 [PubMed]
• van Baal Jantine W. P. M., Diks Sander H., Wanders Ronald J. A., Rygiel Agnieskza M., Milano Francesca, Joore Jos, Bergman Jacques J. G. H. M., Peppelenbosch Maikel P., Krishnadath Kausilia K. Comparison of kinome profiles of Barrett's esophagus with normal squamous esophagus and normal gastric cardia Cancer research 2006;66 (24):11605-11612 [PubMed]
• Spiekerkoetter U., Ruiter J., Tokunaga C., Wendel U., Mayatepek E., Wijburg F. A., Strauss A. W., Wanders R. J. A. Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice Hormone and metabolic research. Hormon- und Stoffwechselforschung. Hormones et metabolisme 2006;38 (10):625-630 [PubMed]
• Vastiau I. M. K., Anthonio E. A., Brams M., Brees C., Young S. G., van de Velde S., Wanders R. J. A., Mannaerts G. P., Baes M., van Veldhoven P. P., Fransen M. Farnesylation of Pex19p is not essential for peroxisome biogenesis in yeast and mammalian cells Cellular and molecular life sciences 2006;63 (14):1686-1699 [PubMed]
• Oey Nadia A., Ruiter Jos P. N., Attié-Bitach Tania, Ijlst Lodewijk, Wanders Ronald J. A., Wijburg Frits A. Fatty acid oxidation in the human fetus: implications for fetal and adult disease Journal of inherited metabolic disease 2006;29 (1):71-75 [PubMed]
• Visser Wouter F., van Roermund Carlo W. T., Ijlst Lodewijk, Hellingwerf Klaas J., Waterham Hans R., Wanders Ronald J. A. First identification of a 2-ketoglutarate/isocitrate transport system in mammalian peroxisomes and its characterization Biochemical and biophysical research communications 2006;348 (4):1224-1231 [PubMed]
• van Woerden Christiaan S., Groothoff Jaap W., Wijburg Frits A., Duran Marinus, Wanders Ronald J. A., Barth Peter G., Poll-The Bwee Tien High incidence of hyperoxaluria in generalized peroxisomal disorders Molecular genetics and metabolism 2006;88 (4):346-350 [PubMed]
• Di Rosa Gabriella, Deodato Federica, Loupatty Ference J., Rizzo Cristiano, Carrozzo Rosalba, Santorelli Filippo M., Boenzi Sara, D'Amico Adele, Tozzi Giulia, Bertini Enrico, Maiorana Andrea, Wanders Ronald J. A., Dionisi-Vici Carlo Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria Journal of inherited metabolic disease 2006;29 (4):546-550 [PubMed]
• Houtkooper Riekelt H., Akbari Hana, van Lenthe Henk, Kulik Willem, Wanders Ronald J. A., Frentzen Margrit, Vaz Frédéric M. Identification and characterization of human cardiolipin synthase FEBS letters 2006;580 (13):3059-3064 [PubMed]
• Komen J. C., Wanders R. J. A. Identification of the cytochrome P450 enzymes responsible for the omega-hydroxylation of phytanic acid FEBS letters 2006;580 (16):3794-3798 [PubMed]
• Das Anibh M., Illsinger Sabine, Lücke Thomas, Hartmann Hans, Ruiter Jos P. N., Steuerwald Ulrike, Waterham Hans R., Duran Marinus, Wanders Ronald J. A. Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene Clinical chemistry 2006;52 (3):530-534 [PubMed]
• Oey N. A., van Vlies N., Wijburg F. A., Wanders R. J. A., Attie-Bitach T., Vaz F. M. L-carnitine is synthesized in the human fetal-placental unit: potential roles in placental and fetal metabolism Placenta 2006;27 (8):841-846 [PubMed]
• Schneiders Marit S., Houten Sander M., Turkenburg Marjolein, Wanders Ronald J. A., Waterham Hans R. Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency Arthritis and rheumatism 2006;54 (7):2306-2313 [PubMed]
• van Vlies Naomi, Wanders Ronald J. A., Vaz Frédéric M. Measurement of carnitine biosynthesis enzyme activities by tandem mass spectrometry: differences between the mouse and the rat Analytical biochemistry 2006;354 (1):132-139 [PubMed]
• Gloerich J. Metabolic consequences of branched-chain fatty acid accumulation in health and disease 2006. 102p. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wanders R. J. A., Wirtz K. W. A.; Co-supervisor: Ferdinandusse S.)
• Linnebank M., Kemp S., Wanders R. J. A., Kleijer W. J., van der Sterre M. L. T., Gärtner J., Fliessbach K., Semmler A., Sokolowski P., Köhler W., Schlegel U., Schmidt S., Klockgether T., Wüllner U. Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy Neurology 2006;66 (3):442-443 [PubMed]
• Oeij N. A. Mitochondrial fatty acid oxidation and carnitine biosynthesis in the human fetal-placenral unit 2006. 117p. ISBN 9789090203201. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wanders R. J. A., Wijburg F. A.; Co-supervisor: Vekemans M.)
• Bams-Mengerink A. M., Majoie C. B. L. M., Duran M., Wanders R. J. A., van Hove J., Scheurer C. D., Barth P. G., Poll-The B. T. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata Neurology 2006;66 (6):798-803; discussion 789 [PubMed]
• Ferdinandusse Sacha, Ylianttila Mari S., Gloerich Jolein, Koski M. Kristian, Oostheim Wendy, Waterham Hans R., Hiltunen J. Kalervo, Wanders Ronald J. A., Glumoff Tuomo Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis American journal of human genetics 2006;78 (1):112-124 [PubMed]
• Ferdinandusse S., Kostopoulos P., Denis S., Rusch H., Overmars H., Dillmann U., Reith W., Haas D., Wanders R. J. A., Duran M., Marziniak M. Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy American journal of human genetics 2006;78 (6):1046-1052 [PubMed]
• Haimi Motti, Elhasid Ronit, Gershoni-Baruch Ruth, Izraeli Shai, Wanders Ronald J. A., Mandel Hanna Myeloid dysplasia in familial 3-methylglutaconic aciduria Journal of pediatric hematology/oncology 2006;28 (2):69-72 [PubMed]
• Liebig Michaela, Schymik Ina, Mueller Martina, Wendel Udo, Mayatepek Ertan, Ruiter Jos, Strauss Arnold W., Wanders Ronald J. A., Spiekerkoetter Ute Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels Pediatrics 2006;118 (3):1065-1069 [PubMed]
• Engelke Udo F. H., Kremer Berry, Kluijtmans Leo A. J., van der Graaf Marinette, Morava Eva, Loupatty Ference J., Wanders Ronald J. A., Moskau Detlef, Loss Sandra, van den Bergh Erik, Wevers Ron A. NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism NMR in biomedicine 2006;19 (2):271-278 [PubMed]
• Sanders R. J., Ofman R., Duran M., Kemp S., Wanders R. J.A. Omega-oxidation of very long-chain fatty acids in human liver microsomes: Implications for X-linked adrenoleukodystrophy? Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde 2006;31 (3):232-233
• Sanders Robert-Jan, Ofman Rob, Duran Marinus, Kemp Stephan, Wanders Ronald J. A. Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophy Journal of biological chemistry 2006;281 (19):13180-13187 [PubMed]
• Poll-The B. T., Aubourg P., Wanders R. J. A. Peroxisomal disordersin: J. Fernandes, J. M. Saudubray, G. van den Berghe, editors. Inborn metabolic diseases. Diagnosis and treatment. S.l.: s.n.; 2006. p. 511-521
• Wanders Ronald J. A., Waterham Hans R. Peroxisomal disorders: the single peroxisomal enzyme deficiencies BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH 2006;1763 (12):1707-1720 [PubMed]
• Gloerich J., Ruiter J. P. N., van den Brink D. M., Ofman R., Ferdinandusse S., Wanders R. J. A. Peroxisomal trans-2-enoyl-CoA reductase is involved in phytol degradation FEBS letters 2006;580 (8):2092-2096 [PubMed]
• van den Brink D. M., Wanders R. J. A. Phytanic acid: production from phytol, its breakdown and role in human disease Cellular and molecular life sciences 2006;63 (15):1752-1765 [PubMed]
• Rosewich H., Waterham H. R., Wanders R. J. A., Ferdinandusse S., Henneke M., Hunneman D., Gärtner J. Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect Neuropediatrics 2006;37 (2):95-98 [PubMed]
• Schymik Ina, Liebig Michaela, Mueller Martina, Wendel Udo, Mayatepek Ertan, Strauss Arnold W., Wanders Ronald J. A., Spiekerkoetter Ute Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry Journal of pediatrics 2006;149 (1):128-130 [PubMed]
• Djouadi F., Aubey F., Schlemmer D., Gobin S., Laforet P., Wanders R. J. A., Strauss A. W., Bonnefont J. P., Bastin J. Potential of fibrates in the treatment of fatty acid oxidation disorders: revival of classical drugs? Journal of inherited metabolic disease 2006;29 (2-3):341-342 [PubMed]
• Ofman Rob, Speijer Dave, Leen René, Wanders Ronald J. A. Proteomic analysis of mouse kidney peroxisomes: identification of RP2p as a peroxisomal nudix hydrolase with acyl-CoA diphosphatase activity Biochemical journal 2006;393 (Part 2):537-543 [PubMed]
• Timmermans Eveline C., Tebas Pablo, Ruiter Jos P. N., Wanders Ronald J. A., de Ronde Anthony, de Baar Michel P. Real-time nucleic acid sequence-based amplification assay to quantify changes in mitochondrial DNA concentrations in cell cultures and blood cells from HIV-infected patients receiving antiviral therapy Clinical chemistry 2006;52 (6):979-987 [PubMed]
• Madsen Pia Pinholt, Kibaek Maria, Roca Xavier, Sachidanandam Ravi, Krainer Adrian R., Christensen Ernst, Steiner Robert D., Gibson K. Michael, Corydon Thomas J., Knudsen Inga, Wanders Ronald J. A., Ruiter Jos P. N., Gregersen Niels, Andresen Brage Storstein Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping Human genetics 2006;118 (6):680-690 [PubMed]
• Linnebank Michael, Semmler Alexander, Kleijer Wim J., van der Sterre Marianne L. T., Gärtner Jutta, Fliessbach Klaus, Sokolowski Piotr, Köhler Wolfgang, Schlegel Uwe, Klockgether Thomas, Wanders Ronald J. A., Schmidt Stephan, Wüllner Ullrich, Kemp Stephan The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy Human mutation 2006;27 (10):1063-1064 [PubMed]
• van Woerden C. S., Groothof J. W., Wanders R. J. A., Waterham H. R., Wijburg F. R. Van gen naar ziekte; primaire hyperoxalurie type I door mutaties in het AGXT-gen Nederlands tijdschrift voor geneeskunde 2006;150 (30):1669-1672 [PubMed]
• Pedersen Christina B., Bischoff Claus, Christensen Ernst, Simonsen Henrik, Lund Allan M., Young Sarah P., Koeberl Dwight D., Millington David S., Roe Charles R., Roe Diane S., Wanders Ronald J. A., Ruiter Jos P. N., Keppen Laura D., Stein Quinn, Knudsen Inga, Gregersen Niels, Andresen Brage S. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening Pediatric research 2006;60 (3):315-320 [PubMed]
• Tong M. K. H., Lam C.-S., Mak T. W. L., Fu M. Y. P., Ng S.-H., Wanders R. J. A., Tang N. L. S. Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure European respiratory journal 2006;28 (2):447-450 [PubMed]

2005

• Perez-Cerda Celia, García-Villoria Judit, Ofman Rob, Sala Pedro Ruiz, Merinero Begoña, Ramos Julio, García-Silva Maria Teresa, Beseler Beatriz, Dalmau Jaime, Wanders Ronald J. A., Ugarte Magdalena, Ribes Antonia 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease Pediatric research 2005;58 (3):488-491 [PubMed]
• Kemp Stephan, Wanders Ronaldus J. A. ABCD1 mutations and the X-linked adrenoleukodystrophy databasein: J Berger, S Stockler-Ipsiroglu, W Kohler, editors. Understanding and Treating of X-linker adrenoleukodystrophy: Present state and future perspectives. SPS-Publications; 2005. p. 166-179
• Oezen Iris, Rossmanith Walter, Forss-Petter Sonja, Kemp Stephan, Voigtländer Till, Moser-Thier Karin, Wanders Ronald J., Bittner Reginald E., Berger Johannes Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency Human molecular genetics 2005;14 (9):1127-1137 [PubMed]
• van den Brink D. M., van Miert J. M., Wanders R. J. A. A novel assay for the prenatal diagnosis of Sjögren-Larsson syndrome Journal of inherited metabolic disease 2005;28 (6):965-969 [PubMed]
• Gloerich J., van Vlies N., Jansen G. A., Denis S., Ruiter J. P. N., van Werkhoven M. A., Duran M., Vaz F. M., Wanders R. J. A., Ferdinandusse S. A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPARalpha-dependent and -independent pathways Journal of lipid research 2005;46 (4):716-726 [PubMed]
• van den Brink Daan M., van Miert Joram M., Wanders Ronald J. A. Assay for Sjögren-Larsson syndrome based on a deficiency of phytol degradation Clinical chemistry 2005;51 (1):240-242 [PubMed]
• Djouadi F., Aubey F., Schlemmer D., Ruiter J. P. N., Wanders R. J. A., Strauss A. W., Bastin Jean Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders Human molecular genetics 2005;14 (18):2695-2703 [PubMed]
• van Vlies Naomi, Tian Liqun, Overmars Henk, Bootsma Albert H., Kulik Willem, Wanders Ronald J. A., Wood Philip A., Vaz Frédéric M. Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse Biochemical journal 2005;387 (Part 1):185-193 [PubMed]
• Komen J. C., Duran M., Wanders R. J. A. Characterization of phytanic acid omega-hydroxylation in human liver microsomes Molecular genetics and metabolism 2005;85 (3):190-195 [PubMed]
• van den Brink Daan M., van Miert Joram N. I., Dacremont Georges, Rontani Jean-François, Wanders Ronald J. A. Characterization of the final step in the conversion of phytol into phytanic acid Journal of biological chemistry 2005;280 (29):26838-26844 [PubMed]
• Visser Wouter F., van Roermund Carlo W., Ijlst Lodewijk, Hellingwerf Klaas J., Wanders Ronald J. A., Waterham Hans R. Demonstration and characterization of phosphate transport in mammalian peroxisomes Biochemical journal 2005;389 (Part 3):717-722 [PubMed]
• Ferdinandusse Sacha, Denis Simone, Overmars Henk, van Eeckhoudt Lisbeth, van Veldhoven Paul P., Duran Marinus, Wanders Ronald J. A., Baes Myriam Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice Journal of biological chemistry 2005;280 (19):18658-18666 [PubMed]
• Oey Nadia A., Ijlst Lodewijk, van Roermund Carlo W. T., Wijburg Frits A., Wanders Ronald J. A. dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase Molecular genetics and metabolism 2005;85 (2):121-124 [PubMed]
• Ventura F. V., Ruiter J., IJlst L., de Almeida I. Tavares, Wanders R. J. A. Differential inhibitory effect of long-chain acyl-CoA esters on succinate and glutamate transport into rat liver mitochondria and its possible implications for long-chain fatty acid oxidation defects Molecular genetics and metabolism 2005;86 (3):344-352 [PubMed]
• Kemp Stephan, Valianpour Fredoen, Denis Simone, Ofman Rob, Sanders Robert-Jan, Mooyer Petra, Barth Peter G., Wanders Ronald J. A. Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy Molecular genetics and metabolism 2005;84 (2):144-151 [PubMed]
• van Karnebeek Clara D. M., Scheper Frederike Y., Abeling Nico G., Alders Marielle, Barth Peter G., Hoovers Jan M. N., Koevoets Cindy, Wanders Ronald J. A., Hennekam Raoul C. M. Etiology of mental retardation in children referred to a tertiary care center: a prospective study American journal of mental retardation 2005;110 (4):253-267 [PubMed]
• Sanders Robert-Jan, Ofman Rob, Valianpour Fredoen, Kemp Stephan, Wanders Ronald J. A. Evidence for two enzymatic pathways for omega-oxidation of docosanoic acid in rat liver microsomes Journal of lipid research 2005;46 (5):1001-1008 [PubMed]
• Monfregola Jlenia, Cevenini Armando, Terracciano Antonio, van Vlies Naomi, Arbucci Salvatore, Wanders Ronald J. A., D'Urso Michele, Vaz Frédéric M., Ursini Matilde Valeria Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting Journal of cellular physiology 2005;204 (3):839-847 [PubMed]
• Hunt M. C., Ruiter J., Mooyer P., van Roermond C. W. T., Ofman R., IJlst L., Wanders R. J. A. Identification of fatty acid oxidation disorder patients with lowered acyl-CoA thioesterase activity in human skin fibroblasts European journal of clinical investigation 2005;35 (1):38-46 [PubMed]
• Bosch Annet M., Ijlst Lodewijk, Oostheim Wendy, Mulders Joyce, Bakker Henk D., Wijburg Frits A., Wanders Ronald J. A., Waterham Hans R. Identification of novel mutations in classical galactosemia Human mutation 2005;25 (5):502 [PubMed]
• Spaan András N., Ijlst Lodewijk, van Roermund Carlo W. T., Wijburg Frits A., Wanders Ronald J. A., Waterham Hans R. Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency Molecular genetics and metabolism 2005;86 (4):441-447 [PubMed]
• Ferrer Isidre, Kapfhammer Josef P., Hindelang Colette, Kemp Stephan, Troffer-Charlier Nathalie, Broccoli Vania, Callyzot Noëlle, Mooyer Petra, Selhorst Jacqueline, Vreken Peter, Wanders Ronald J. A., Mandel Jean Louis, Pujol Aurora Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage Human molecular genetics 2005;14 (23):3565-3577 [PubMed]
• Frishberg Yaacov, Rinat Choni, Shalata Adel, Khatib Ihab, Feinstein Sofia, Becker-Cohen Rachel, Weismann Irit, Wanders Ronald J. A., Rumsby Gill, Roels Frank, Mandel Hanna Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel American journal of nephrology 2005;25 (3):269-275 [PubMed]
• Oey Nadia A., den Boer Margarethe E. J., Wijburg Frits A., Vekemans Michel, Augé Joëlle, Steiner Céline, Wanders Ronald J. A., Waterham Hans R., Ruiter Jos P. N., Attié-Bitach Tania Long-chain fatty acid oxidation during early human development Pediatric research 2005;57 (6):755-759 [PubMed]
• Visser W. F. Metabolite transport across the peroxisomal membrane 2005. 101p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisors: Waterham H. R., van Roermund C. W. T.)
• van den Brink D. M. Molecular aspects of refsum disease and th enzymatic degradation of phytol to phytanic acid 2005. 103p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.)
• Hashimoto Kazuyuki, Kato Zenichiro, Nagase Tomoko, Shimozawa Nobuyuki, Kuwata Kazuo, Omoya Kentaro, Li Ailian, Matsukuma Eiji, Yamamoto Yutaka, Ohnishi Hidenori, Tochio Hidehito, Shirakawa Masahiro, Suzuki Yasuyuki, Wanders Ronald J. A., Kondo Naomi Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder Pediatric research 2005;58 (2):263-269 [PubMed]
• Valianpour Fredoen, Mitsakos Voula, Schlemmer Dimitri, Towbin Jeffrey A., Taylor Juliet M., Ekert Paul G., Thorburn David R., Munnich Arnold, Wanders Ronald J. A., Barth Peter G., Vaz Frédéric M. Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis Journal of lipid research 2005;46 (6):1182-1195 [PubMed]
• Sander Johannes, Sander Stefanie, Steuerwald Ulrike, Janzen Nils, Peter Michael, Wanders Ronald J. A., Marquardt Iris, Korenke G. Christoph, Das Anibh M. Neonatal screening for defects of the mitochondrial trifunctional protein Molecular genetics and metabolism 2005;85 (2):108-114 [PubMed]
• Soorani-Lunsing R. J., van Spronsen F. J., Stolte-Dijkstra I., Wanders R. J., Ferdinandusse S., Waterham H. R., Poll-The B. T., Rake J. P. Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall Journal of inherited metabolic disease 2005;28 (6):1172-1174 [PubMed]
• Korman Stanley H., Waterham Hans R., Gutman Alisa, Jakobs Cornelis, Wanders Ronald J. A. Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency Molecular genetics and metabolism 2005;86 (3):337-343 [PubMed]
• Lamhonwah Anne-Marie, Ackerley Cameron A., Tilups Aina, Edwards Vernon D., Wanders Ronald J., Tein Ingrid OCTN3 is a mammalian peroxisomal membrane carnitine transporter Biochemical and biophysical research communications 2005;338 (4):1966-1972 [PubMed]
• van Maldergem L., Moser A. B., Vincent M.-F., Roland D., Reding R., Otte J.-B., Wanders R. J., Sokal E. Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type Journal of inherited metabolic disease 2005;28 (4):593-600 [PubMed]
• Zha Shan, Ferdinandusse Sacha, Hicks Jessica L., Denis Simone, Dunn Thomas A., Wanders Ronald J., Luo Jun, de Marzo Angelo M., Isaacs William B. Peroxisomal branched chain fatty acid beta-oxidation pathway is upregulated in prostate cancer Prostate 2005;63 (4):316-323 [PubMed]
• Wanders R. J. A., Waterham H. R. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders Clinical genetics 2005;67 (2):107-133 [PubMed]
• Kashiwayama Yoshinori, Asahina Kota, Shibata Hiroyuki, Morita Masashi, Muntau Ania C., Roscher Adelbert A., Wanders Ronald J. A., Shimozawa Nobuyuki, Sakaguchi Masao, Kato Hiroaki, Imanaka Tsuneo Role of Pex19p in the targeting of PMP70 to peroxisome BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH 2005;1746 (2):116-128 [PubMed]
• van Maldegem B. T., Waterham H. R., Duran M., van der Vlies M., van Woerden C. S., Bobu L. L., Wanders R. J. A., Wijburg F. A. The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots Journal of inherited metabolic disease 2005;28 (4):557-562 [PubMed]
• Spiekerkoetter Ute, Tokunaga Chonan, Wendel Udo, Mayatepek Ertan, Ijlst Lodewijk, Vaz Frederic M., van Vlies Naomi, Overmars Henk, Duran Marinus, Wijburg Frits A., Wanders Ronald J., Strauss Arnold W. Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice Pediatric research 2005;57 (6):760-764 [PubMed]

2004

• Bischof Felix, Nägele Thomas, Wanders Ronald J. A., Trefz Friedrich K., Melms Arthur 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy Annals of neurology 2004;56 (5):727-730 [PubMed]
• Gu Zhiming, Valianpour Fredoen, Chen Shuliang, Vaz Frederic M., Hakkaart Gertjan A., Wanders Ronald J. A., Greenberg Miriam L. Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome Molecular microbiology 2004;51 (1):149-158 [PubMed]
• Valianpour F. A mass spectometric approach to investigate cardiolipin metabolism in Barth syndrome 2004. 143p. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wanders R. J. A., Barth P. G.; Co-supervisor: van Gennip A. H.)
• Mayatepek Ertan, Ferdinandusse Sacha, Meissner Thomas, Wanders Ronald J. A. Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects Clinica chimica acta; international journal of clinical chemistry 2004;345 (1-2):89-92 [PubMed]
• Rubio-Gozalbo M. E., Bakker J. A., Waterham H. R., Wanders R. J. A. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects Molecular aspects of medicine 2004;25 (5-6):521-532 [PubMed]
• Spiekerkoetter U., Tokunaga C., Wendel U., Mayatepek E., Exil V., Duran M., Wijburg F. A., Wanders R. J. A., Strauss A. W. Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress European journal of clinical investigation 2004;34 (3):191-196 [PubMed]
• Bosch A. M. Classical galactosemia revisited 2004. 151p. ISBN 9789090187235. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Heymans H. S. A., Wanders R. J. A.; Co-supervisors: Bakker H. D., Wijburg F. A.)
• van Woerden Christiaan S., Groothoff Jaap W., Wijburg Frits A., Annink Carla, Wanders Ronald J. A., Waterham Hans R. Clinical implications of mutation analysis in primary hyperoxaluria type 1 Kidney international 2004;66 (2):746-752 [PubMed]
• Wanders R. J. A. Defects in mitochondrial and perioxisomal fatty acid oxidationin: G. van der Vusse, editors. Lipobiology. Amsterdam - Tokyo: Elsevier; 2004. p. 295-317
• Loupatty Ference J., Ruiter Jos P. N., Ijlst Lodewijk, Duran Marinus, Wanders Ronald J. A. Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I Clinical chemistry 2004;50 (8):1447-1450 [PubMed]
• Tabbers M. M., van Kempen A. A. M. W., Duran M., Brand M. E., Bosman D. K., Wanders R. J. A., Poll-The B. T. Een pasgeborene met een zeldzame oorzaak van cholestase; een peroxisomale ziekte Tijdschrift voor kindergeneeskunde 2004;72 (2):60-65
• Molven Anders, Matre Guri E., Duran Marinus, Wanders Ronald J., Rishaug Unni, Njølstad Pål R., Jellum Egil, Søvik Oddmund Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation Diabetes 2004;53 (1):221-227 [PubMed]
• Strenge S., Froster U. G., Wanders R. J. A., Gartner J., Maier E. M., Muntau A. C., Faber R. First-trimester increased nuchal translucency as a prenatal sign of Zellweger syndrome Prenatal diagnosis 2004;24 (2):151-153 [PubMed]
• Brites P., Waterham H. R., Wanders R. J. A. Functions and biosynthesis of plasmalogens in health and disease BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2004;1636 (2-3):219-231 [PubMed]
• Houten S. M., Frenkel J., Wanders R. J. A., Waterham H. R. Het hyper-IgD- en periodiekekoortssyndroom: een rol voor de mevalonaatroute in de regulatie van ontsteking en koorts Nederlands tijdschrift voor geneeskunde 2004;148 (5):254
• Bosch A. M., Bakker H. D., Wenniger-Prick L. J. M. de B., Wanders R. J. A., Wijburg F. A. High tolerance for oral galactose in classical galactosaemia: dietary implications Archives of disease in childhood 2004;89 (11):1034-1036 [PubMed]
• Hogenboom Sietske, Tuyp John J. M., Espeel Marc, Koster Janet, Wanders Ronald J. A., Waterham Hans R. Human mevalonate pyrophosphate decarboxylase is localized in the cytosol Molecular genetics and metabolism 2004;81 (3):216-224 [PubMed]
• Shimozawa Nobuyuki, Tsukamoto Toshiro, Nagase Tomoko, Takemoto Yasuhiko, Koyama Naoki, Suzuki Yasuyuki, Komori Masayuki, Osumi Takashi, Jeannette Gootjes, Wanders Ronald J. A., Kondo Naomi Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene Human mutation 2004;23 (6):552-558 [PubMed]
• van den Brink Daan M., van Miert Joram N. I., Dacremont Georges, Rontani Jean-François, Jansen Gerbert A., Wanders Ronald J. A. Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid Molecular genetics and metabolism 2004;82 (1):33-37 [PubMed]
• Gootjes Jeannette, Schmohl Frank, Mooijer Petra A. W., Dekker Conny, Mandel Hanna, Topcu Meral, Huemer Martina, Von Schütz M., Marquardt Thorsten, Smeitink Jan A., Waterham Hans R., Wanders Ronald J. A. Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism Human mutation 2004;24 (2):130-139 [PubMed]
• Ferdinandusse Sacha, Denis Simone, van Roermund Carlo W. T., Wanders Ronald J. A., Dacremont Georges Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids Journal of lipid research 2004;45 (6):1104-1111 [PubMed]
• Topçu Meral, Jobard Florence, Halliez Sophie, Coskun Turgay, Yalçinkayal Cengiz, Gerceker Filiz Ozbas, Wanders Ronald J. A., Prud'homme Jean-François, Lathrop Mark, Ozguc Meral, Fischer Judith L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1 Human molecular genetics 2004;13 (22):2803-2811 [PubMed]
• Wanders Ronald J. A. Metabolic and molecular basis of peroxisomal disorders: a review American journal of medical genetics. Part A 2004;126A (4):355-375 [PubMed]
• Kemp Stephan, Valianpour Fredoen, Mooyer Petra A. W., Kulik Willem, Wanders Ronald J. A. Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid Clinical chemistry 2004;50 (10):1824-1826 [PubMed]
• Hogenboom Sietske, Tuyp John J. M., Espeel Marc, Koster Janet, Wanders Ronald J. A., Waterham Hans R. Mevalonate kinase is a cytosolic enzyme in humans Journal of cell science 2004;117 (Part 4):631-639 [PubMed]
• Waterham H. R., Koster J., Romeijn G. J., Vreken P., Hennekam R. C. M., Andersson H. C., Fitzpatrick D. R., Kelley R. I., Wanders R. J. A. Moleculaire basis van desmosterolosis, een autosomaal recessief overervend defect in de cholesterol Nederlands tijdschrift voor geneeskunde 2004;148 (5):253
• Jansen Gerbert A., Waterham Hans R., Wanders Ronald J. A. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7) Human mutation 2004;23 (3):209-218 [PubMed]
• Gootjes J. Molecular, biochemical end clinical aspects of peroxisomes biogenesis disorders 2004. 126p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisor: Waterham H. R.)
• Barth P. G., Majoie C. B. L. M., Gootjes J., Wanders R. J. A., Waterham H. R., van der Knaap M. S., de Klerk J. B. C., Smeitink J., Poll-The B. T. Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival Neurology 2004;62 (3):439-444 [PubMed]
• Kuijpers Taco W., Maianski Nikolai A., Tool Anton T. J., Becker Kolja, Plecko Barbara, Valianpour Fredoen, Wanders Ron J. A., Pereira Rob, van Hove Johan, Verhoeven Arthur J., Roos Dirk, Baas Frank, Barth Peter G. Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis Blood 2004;103 (10):3915-3923 [PubMed]
• Raupp P., Varady E., Duran M., Wanders R. J. A., Waterham H. R., Houten S. M. Novel genotype of mevalonic aciduria with fatalities in premature siblings Archives of disease in childhood. Fetal and neonatal edition 2004;89 (1):F90-F91 [PubMed]
• Gootjes Jeannette, Schmohl Frank, Waterham Hans R., Wanders Ronald J. A. Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder European journal of human genetics 2004;12 (2):115-120 [PubMed]
• Gootjes Jeannette, Elpeleg Orly, Eyskens François, Mandel Hanna, Mitanchez Delphine, Shimozawa Noboyuki, Suzuki Yasuyuki, Waterham Hans R., Wanders Ronald J. A. Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder Pediatric research 2004;55 (3):431-436 [PubMed]
• Komen J. C., Duran M., Wanders R. J. A. Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease Journal of lipid research 2004;45 (7):1341-1346 [PubMed]
• Schröder J. M., Hackel V., Wanders R. J. A., Göhlich-Ratmann G., Voit T. Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency Acta neuropathologica 2004;108 (2):154-167 [PubMed]
• Wanders R. J. A., Duran M., Poll-The B. T., Waterham H. R. Peroxisomale ziekten: metabole en moleculaire basis en laboratoriumdiagnostiek Nederlands tijdschrift voor klinische chemie en laboratoriumgeneeskunde 2004;29:2-23
• Poll-The Bwee Tien, Gootjes Jeannette, Duran Marinus, de Klerk Johannis B. C., Maillette de Buy Wenniger-Prick Liesbeth J., Admiraal Ronald J. C., Waterham Hans R., Wanders Ronald J. A., Barth Peter G. Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients American journal of medical genetics. Part A 2004;126A (4):333-338 [PubMed]
• Wanders R. J. A. Peroxisomes, lipid metabolism, and peroxisomal disorders Molecular genetics and metabolism 2004;83 (1-2):16-27 [PubMed]
• Michelakakis Helen M., Zafeiriou Dimitrios I., Moraitou Marina S., Gootjes Jeannette, Wanders Ronald J. A. PEX1 deficiency presenting as Leber congenital amaurosis Pediatric neurology 2004;31 (2):146-149 [PubMed]
• Hogenboom Sietske, Tuyp John J. M., Espeel Marc, Koster Janet, Wanders Ronald J. A., Waterham Hans R. Phosphomevalonate kinase is a cytosolic protein in humans Journal of lipid research 2004;45 (4):697-705 [PubMed]
• Dansen Tobias B., Kops Geert J. P. L., Denis Simone, Jelluma Nannette, Wanders Ronald J. A., Bos Johannes L., Burgering Boudewijn M. T., Wirtz Karel W. A. Regulation of sterol carrier protein gene expression by the forkhead transcription factor FOXO3a Journal of lipid research 2004;45 (1):81-88 [PubMed]
• Gootjes J., Skovby F., Christensen E., Wanders R. J. A., Ferdinandusse S. Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder Neurology 2004;62 (11):2077-2081 [PubMed]
• Poll-The Bwee Tien, Wanders Ronald J. A., Ruiter Jos P. N., Ofman Rob, Majoie Charles B. L. M., Barth Peter G., Duran Marinus Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases Molecular genetics and metabolism 2004;81 (4):295-299 [PubMed]
• Kurian M. A., Ryan S., Besley G. T. N., Wanders R. J. A., King M. D. Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy Journal of inherited metabolic disease 2004;27 (1):105-108 [PubMed]
• Hogenboom S. Subcellular localization of the hum isoprenoid biosynthesis pathway 2004. 128p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisor: Waterham H. R.)
• Ma Lining, Vaz Frederic M., Gu Zhiming, Wanders Ronald J. A., Greenberg Miriam L. The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome Journal of biological chemistry 2004;279 (43):44394-44399 [PubMed]
• van Roermund Carlo W. T., de Jong Mark, Ijlst Lodewijk, van Marle Jan, Dansen Tobias B., Wanders Ronald J. A., Waterham Hans R. The peroxisomal lumen in Saccharomyces cerevisiae is alkaline Journal of cell science 2004;117 (Part 18):4231-4237 [PubMed]
• Clarke C. E., Alger S., Preece M. A., Burdon M. A., Chavda S., Denis S., Ferdinandusse S., Wanders R. J. A. Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency Neurology 2004;63 (1):188-189 [PubMed]
• Silva Margarida F. B., Ijlst Lodewijk, Allers Paul, Jakobs Cornelis, Duran Marinus, de Almeida Isabel Tavares, Wanders Ronald J. A. Valproyl-dephosphoCoA: a novel metabolite of valproate formed in vitro in rat liver mitochondria Drug metabolism and disposition: the biological fate of chemicals 2004;32 (11):1304-1310 [PubMed]
• Rijlaarsdam Renske S., van Spronsen Francjan J., Bink-Boelkens Margreet Th E., Reijngoud Dirk-Jan, Wanders Ronald J. A., Niezen-Koning Klary E., van der Sluijs Fjodor H., Dorland Bert, Beaufort-Krol Gertie C. M. Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence Pacing and clinical electrophysiology 2004;27 (5):675-676 [PubMed]
• Barth Peter G., Valianpour Fredoen, Bowen Valerie M., Lam Jan, Duran Marinus, Vaz Frédéric M., Wanders Ronald J. A. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update American journal of medical genetics. Part A 2004;126A (4):349-354 [PubMed]

2003

• Ofman Rob, Ruiter Jos P. N., Feenstra Marike, Duran Marinus, Poll-The Bwee Tien, Zschocke Johannes, Ensenauer Regina, Lehnert Willy, Sass Jörn Oliver, Sperl Wolfgang, Wanders Ronald J. A. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene American journal of human genetics 2003;72 (5):1300-1307 [PubMed]
• Sutton V. R., O'Brien W. E., Clark G. D., Kim J., Wanders R. J. A. 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency Journal of inherited metabolic disease 2003;26 (1):69-71 [PubMed]
• Zha Shan, Ferdinandusse Sacha, Denis Simone, Wanders Ronald J., Ewing Charles M., Luo Jun, de Marzo Angelo M., Isaacs William B. Alpha-methylacyl-CoA racemase as an androgen-independent growth modifier in prostate cancer Cancer research 2003;63 (21):7365-7376 [PubMed]
• Valianpour Fredoen, Selhorst Jacqueline J. M., van Lint Lia E. M., van Gennip Albert H., Wanders Ronald J. A., Kemp Stephan Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry Molecular genetics and metabolism 2003;79 (3):189-196 [PubMed]
• Gloerich Jolein, Denis Simone, van Grunsven Elisabeth G., Dacremont Georges, Wanders Ronald J. A., Ferdinandusse Sacha A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency Journal of lipid research 2003;44 (3):640-644 [PubMed]
• Al Aqeel A. I., Rashid M. S., Ruiter J. Pn, IJlst L., Wanders R. Ja A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient Clinical genetics 2003;64 (2):163-165 [PubMed]
• Smeets Roel J. P., Smeitink Jan A. M., Semmekrot Ben A., Scholte Hans R., Wanders Ronald J. A., van den Heuvel Lambert P. W. J. A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency Journal of human genetics 2003;48 (1):8-13 [PubMed]
• Waterham Hans R., Koster Janet, Mooyer Petra, van Noort Gerard, Kelley Richard I., Wilcox William R., Wanders Ronald J. A., Hennekam Raoul C. M., Oosterwijk Jan C. Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene American journal of human genetics 2003;72 (4):1013-1017 [PubMed]
• Gootjes Jeannette, Mooijer Petra A. W., Dekker Conny, Barth Peter G., Poll-The Bwee Tien, Waterham Hans R., Wanders Ronald J. A. Biochemical markers predicting survival in peroxisome biogenesis disorders Advances in experimental medicine and biology 2003;544:67-68 [PubMed]
• Rubio-Gozalbo M. E., Vos P., Forget P. Ph, van der Meer S. B., Wanders R. J. A., Waterham H. R., Bakker J. A. Carnitine-acylcarnitine translocase deficiency: case report and review of the literature Acta paediatrica (Oslo, Norway 2003;92 (4):501-504 [PubMed]
• Houten Sander M., van Woerden Christiaan S., Wijburg Frits A., Wanders Ronald J. A., Waterham Hans R. Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands European journal of human genetics 2003;11 (2):196-200 [PubMed]
• Rizzo Cristiano, Boenzi Sara, Wanders Ronald J. A., Duran Marinus, Caruso Ubaldo, Dionisi-Vici Carlo Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry Pediatric research 2003;53 (6):1013-1018 [PubMed]
• Hogenboom Sietske, Wanders Ronald J. A., Waterham Hans R. Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts Molecular genetics and metabolism 2003;80 (3):290-295 [PubMed]
• Schwab Karl Otfried, Ensenauer Regina, Matern Dietrich, Uyanik Gökhan, Schnieders Birgit, Wanders Ronald A., Lehnert Willy Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcome European journal of pediatrics 2003;162 (2):90-95 [PubMed]
• Duran M., Abeling N. G. G. M., Waterham H. R., Wanders R. J. A. De diagnostiek van erfelijke metabole ziekten als onderdeel van de klinische chemie Nederlands tijdschrift voor klinische chemie en laboratoriumgeneeskunde 2003;28:305-308
• Ferdinandusse Sacha, Finckh Barbara, de Hingh Yvette C., Stroomer Lida E. M., Denis Simone, Kohlschütter Alfried, Wanders Ronald J. A. Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency Molecular genetics and metabolism 2003;79 (4):281-287 [PubMed]
• Simadibrata Marcellus, Wanders Ronald J. A., Jan Gerrit, Tytgat Guido N. J., Lesmana Laurentius A., Daldiyono N. N., Ariawan Iwan Examination of small bowel enzymes in chronic diarrhea Journal of gastroenterology and hepatology 2003;18 (1):53-56 [PubMed]
• van Roermund C. W. T., Waterham H. R., IJlst L., Wanders R. J. A. Fatty acid metabolism in Saccharomyces cerevisiae Cellular and molecular life sciences 2003;60 (9):1838-1851 [PubMed]
• Bosch A. M., de Klerk J. B. C., Poll-The B. T., van Spronsen F. J., Wanders R. J. A., Bakker H. D. Galactosemie in Nederland, opnieuw beschouwd Tijdschrift voor kindergeneeskunde 2003;71 (2):49
• van der Eb Marjolijn M., Geutskens Sacha B., van Kuilenburg André B. P., van Lenthe Henk, van Dierendonck Jan-Hein, Kuppen Peter J. K., van Ormondt Hans, van de Velde Cornelis J. H., Wanders Ronald J. A., van Gennip Albert H., Hoeben Rob C. Ganciclovir nucleotides accumulate in mitochondria of rat liver cells expressing the herpes simplex virus thymidine kinase gene journal of gene medicine 2003;5 (12):1018-1027 [PubMed]
• Takemoto Yasuhiko, Suzuki Yasuyuki, Horibe Ryoko, Shimozawa Nobuyuki, Wanders Ronald J. A., Kondo Naomi Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders Brain & development 2003;25 (7):481-487 [PubMed]
• Oey N. A., den Boer M. E. J., Ruiter J. P. N., Wanders R. J. A., Duran M., Waterham H. R., Boer K., van der Post J. A. M., Wijburg F. A. High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal disease Journal of inherited metabolic disease 2003;26 (4):385-392 [PubMed]
• van den Brink Daan M., Brites Pedro, Haasjes Janet, Wierzbicki Anthony S., Mitchell John, Lambert-Hamill Michelle, de Belleroche Jacqueline, Jansen Gerbert A., Waterham Hans R., Wanders Ronald J. A. Identification of PEX7 as the second gene involved in Refsum disease Advances in experimental medicine and biology 2003;544:69-70 [PubMed]
• van den Brink Daan M., Brites Pedro, Haasjes Janet, Wierzbicki Anthony S., Mitchell John, Lambert-Hamill Michelle, de Belleroche Jacqueline, Jansen Gerbert A., Waterham Hans R., Wanders Ronald J. A. Identification of PEX7 as the second gene involved in Refsum disease American journal of human genetics 2003;72 (2):471-477 [PubMed]
• Langius Fernanda A. A., Waterham Hans R., Romeijn Gerrit Jan, Oostheim Wendy, de Barse Martina M. J., Dorland Lambertus, Duran Marinus, Beemer Frits A., Wanders Ronald J. A., Poll-The Bwee Tien Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome American journal of medical genetics. Part A 2003;122A (1):24-29 [PubMed]
• Brites Pedro, Motley Alison M., Gressens Pierre, Mooyer Petra A. W., Ploegaert Ingrid, Everts Vincent, Evrard Philippe, Carmeliet Peter, Dewerchin Mieke, Schoonjans Luc, Duran Marinus, Waterham Hans R., Wanders Ronald J. A., Baes Myriam Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata Human molecular genetics 2003;12 (18):2255-2267 [PubMed]
• Valianpour F., Wanders R. J. A., Overmars H., Vaz F. M., Barth P. G., van Gennip A. H. Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment Journal of lipid research 2003;44 (3):560-566 [PubMed]
• Prietsch Viola, Mayatepek Ertan, Krastel Hermann, Haas Dorothea, Zundel Dorothee, Waterham Hans R., Wanders Ronald J. A., Gibson K. Michael, Hoffmann Georg F. Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum Pediatrics 2003;111 (2):258-261 [PubMed]
• den Boer Margarethe E. J., Dionisi-Vici Carlo, Chakrapani Anupam, van Thuijl Anders O. J., Wanders Ronald J. A., Wijburg Frits A. Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement Journal of pediatrics 2003;142 (6):684-689 [PubMed]
• den Boer M. E. J. Mitochondrial trifunctional protein in disease and development 2003. 140p. ISBN 9789090175065. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wanders R. J. A., Heymans H. S. A.; Co-supervisor: Wijburg F. A.)
• Spiekerkoetter Ute, Sun Bin, Zytkovicz Thomas, Wanders Ronald, Strauss Arnold W., Wendel Udo MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency Journal of pediatrics 2003;143 (3):335-342 [PubMed]
• Vaz Frédéric M., Houtkooper Riekelt H., Valianpour Fredoen, Barth Peter G., Wanders Ronald J. A. Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism Journal of biological chemistry 2003;278 (44):43089-43094 [PubMed]
• Wanders R. J. A., Barth P. G., Poll-The B. T. Peroxisomal disordersin: N. Blau, M. E. Blaskovics, M. Duran, K. M. Gibson, editors. Physician's guide to the laboratory dignosis of metabolic diseases. Berlin Heidelberg New York: Springer-Verlag; 2003. p. 481-508, ISBN 9783540425427
• Wanders Ronald J. A., van Roermund Carlo W. T., Visser Wouter F., Ferdinandusse Sacha, Jansen Gerbert A., van den Brink Daan M., Gloerich Jolein, Waterham Hans R. Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insights Advances in experimental medicine and biology 2003;544:293-302 [PubMed]
• Hogenboom Sietske, Romeijn Gerrit Jan, Houten Sander M., Baes Myriam, Wanders Ronald J. A., Waterham Hans R. Peroxisome deficiency does not result in deficiency of enzymes involved in cholesterol biosynthesis Advances in experimental medicine and biology 2003;544:329-330 [PubMed]
• Roels Frank, Saudubray Jean-Marie, Giros Marisa, Mandel Hanna, Eyskens François, Saracibar Nieves, Atares Pueyo Begoña, Prats Jose M., de Prest Betty, de Preter Kathleen, Pineda Mercedes, Krystkowiak Pierre, Gootjes Jeannette, Wanders Ronald J. A., Espeel Marc, Poll-The Bwee Tien Peroxisome mosaics Advances in experimental medicine and biology 2003;544:97-106 [PubMed]
• Schlame Michael, Kelley Richard I., Feigenbaum Annette, Towbin Jeffrey A., Heerdt Paul M., Schieble Thomas, Wanders Ronald J. A., DiMauro Salvatore, Blanck Thomas J. J. Phospholipid abnormalities in children with Barth syndrome Journal of the American College of Cardiology 2003;42 (11):1994-1999 [PubMed]
• Wanders R. J. A., Jansen G. A., Lloyd M. D. Phytanic acid alpha-oxidation, new insights into an old problem: a review BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2003;1631 (2):119-135 [PubMed]
• van Woerden Christiaan S., Groothoff Jaap W., Wanders Ronald J. A., Davin Jean-Claude, Wijburg Frits A. Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome Nephrology, dialysis, transplantation 2003;18 (2):273-279 [PubMed]
• Houten Sander M., Schneiders Marit S., Wanders Ronald J. A., Waterham Hans R. Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients Journal of biological chemistry 2003;278 (8):5736-5743 [PubMed]
• Gootjes Jeannette, Mandel Hanna, Mooijer Petra A. W., Roels Frank, Waterham Hans R., Wanders Ronald J. A. Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver Advances in experimental medicine and biology 2003;544:107-111 [PubMed]
• Bok Levinus A., Vreken Peter, Wijburg Frits A., Wanders Ronald J. A., Gregersen Niels, Corydon Morten J., Waterham Hans R., Duran Marinus Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder Pediatrics 2003;112 (5):1152-1155 [PubMed]
• Spiekerkoetter U., Huener G., Baykal T., Demirkol M., Duran M., Wanders R., Nezu J., Mayatepek E. Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2 Journal of inherited metabolic disease 2003;26 (6):613-615 [PubMed]
• Jira P. E., Waterham H. R., Wanders R. J. A., Smeitink J. A. M., Sengers R. C. A., Wevers R. A. Smith-Lemli-Opitz syndrome and the DHCR7 gene Annals of human genetics 2003;67 (Part 3):269-280 [PubMed]
• Muth A., Mosandl A., Wanders R. J. A., Nowaczyk M. J. M., Baric I., Böhles H., Sewell A. C. Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed with medium-chain triglycerides Journal of inherited metabolic disease 2003;26 (6):583-592 [PubMed]
• Korenke G. C., Wanders R. J. A., Hanefeld F. Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Journal of inherited metabolic disease 2003;26 (1):67-68 [PubMed]
• Ferdinandusse Sacha, Denis Simone, Dacremont Georges, Wanders Ronald J. A. Studies on the metabolic fate of n-3 polyunsaturated fatty acids Journal of lipid research 2003;44 (10):1992-1997 [PubMed]
• Mukherji Mridul, Schofield Christopher J., Wierzbicki Anthony S., Jansen Gerbert A., Wanders Ronald J. A., Lloyd Matthew D. The chemical biology of branched-chain lipid metabolism Progress in lipid research 2003;42 (5):359-376 [PubMed]

2002

• Olpin S. E., Pollitt R. J., McMenamin J., Manning N. J., Besley G., Ruiter J. P. N., Wanders R. J. A. 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man Journal of inherited metabolic disease 2002;25 (6):477-482 [PubMed]
• Ijlst Lodewijk, Loupatty Ference J., Ruiter Jos P. N., Duran Marinus, Lehnert Willy, Wanders Ronald J. A. 3-Methylglutaconic aciduria type I is caused by mutations in AUH American journal of human genetics 2002;71 (6):1463-1466 [PubMed]
• Hogenboom Sietske, Romeijn Gerrit Jan, Houten Sander M., Baes Myriam, Wanders Ronald J. A., Waterham Hans R. Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis Journal of lipid research 2002;43 (1):90-98 [PubMed]
• Luo Jun, Zha Shan, Gage Wesley R., Dunn Thomas A., Hicks Jessica L., Bennett Christina J., Ewing Charles M., Platz Elizabeth A., Ferdinandusse Sacha, Wanders Ronald J., Trent Jeffrey M., Isaacs William B., de Marzo Angelo M. Alpha-methylacyl-CoA racemase: a new molecular marker for prostate cancer Cancer research 2002;62 (8):2220-2226 [PubMed]
• Okun J. G., Kölker S., Schulze A., Kohlmüller D., Olgemöller K., Lindner M., Hoffmann G. F., Wanders R. J. A., Mayatepek E. A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2002;1584 (2-3):91-98 [PubMed]
• Vaz Frédéric M., Melegh Bela, Bene Judit, Cuebas Dean, Gage Douglas A., Bootsma Albert, Vreken Peter, van Gennip Albert H., Bieber Loran L., Wanders Ronald J. A. Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry Clinical chemistry 2002;48 (6 Part 1):826-834 [PubMed]
• McLean B. N., Allen J., Ferdinandusse S., Wanders R. J. A. A new defect of peroxisomal function involving pristanic acid: a case report Journal of neurology, neurosurgery, and psychiatry 2002;72 (3):396-399 [PubMed]
• Shimozawa Nobuyuki, Nagase Tomoko, Takemoto Yasuhiko, Suzuki Yasuyuki, Fujiki Yukio, Wanders Ronald J. A., Kondo Naomi A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome Biochemical and biophysical research communications 2002;292 (1):109-112 [PubMed]
• Raas-Rothschild Annick, Wanders Ronald J. A., Mooijer Petra A. W., Gootjes Jeannette, Waterham Hans R., Gutman Alisa, Suzuki Yasuyuki, Shimozawa Nobuyuki, Kondo Naomi, Eshel Gideon, Espeel Marc, Roels Frank, Korman Stanley H. A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents American journal of human genetics 2002;70 (4):1062-1068 [PubMed]
• Houten S. M. Biochemical and genetic aspects of mevalonate kinase and its deficiency 2002. 128p. ISBN 9789090158822. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wanders R. J. A., Kuis W.; Co-supervisor: Waterham H. R.)
• Gootjes J., Mooijer P. A. W., Dekker C., Barth P. G., Poll-The B. T., Waterham H. R., Wanders R. J. A. Biochemical markers predicting survival in peroxisome biogenesis disorders Neurology 2002;59 (11):1746-1749 [PubMed]
• Valianpour Fredoen, Wanders Ronald J. A., Overmars Henk, Vreken Peter, van Gennip Albert H., Baas Frank, Plecko Barbara, Santer Rene, Becker Kolja, Barth Peter G. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts Journal of pediatrics 2002;141 (5):729-733 [PubMed]
• Vaz Frédéric M., Wanders Ronald J. A. Carnitine biosynthesis in mammals Biochemical journal 2002;361 (Part 3):417-429 [PubMed]
• Swiegers Jan H., Vaz Frédéric M., Pretorius Isak S., Wanders Ronald J. A., Bauer Florian F. Carnitine biosynthesis in Neurospora crassa: identification of a cDNA coding for epsilon-N-trimethyllysine hydroxylase and its functional expression in Saccharomyces cerevisiae FEMS microbiology letters 2002;210 (1):19-23 [PubMed]
• Kleijer W. J., Garritsen V. H., Linnebank M., Mooyer P., Huijmans J. G. M., Mustonen A., Simola K. O. J., Arslan-Kirchner M., Battini R., Briones P., Cardo E., Mandel H., Tschiedel E., Wanders R. J. A., Koch H. G. Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families Journal of inherited metabolic disease 2002;25 (5):399-410 [PubMed]
• Bosch A. M., Bakker H. D., van Gennip A. H., van Kempen J. V., Wanders R. J. A., Wijburg F. A. Clinical features of galactokinase deficiency: a review of the literature Journal of inherited metabolic disease 2002;25 (8):629-634 [PubMed]
• Ensenauer Regina, Niederhoff Helmut, Ruiter Jos P. N., Wanders Ronald J. A., Schwab K. Otfried, Brandis Matthias, Lehnert Willy Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency Annals of neurology 2002;51 (5):656-659 [PubMed]
• Silva Margarida F. B., Ruiter Jos P. N., Overmars Henk, Bootsma Albert H., van Gennip Albert H., Jakobs Cornelis, Duran Marinus, Tavares de Almeida Isabel, Wanders Ronald J. A. Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase Biochemical journal 2002;362 (Part 3):755-760 [PubMed]
• Ofman R., el Mrabet L., Dacremont G., Spijer D., Wanders R. J. A. Demonstration of dimethylnonanoyl-CoA thioesterase activity in rat liver peroxisomes followed by purification and molecular cloning of the thioesterase involved Biochemical and biophysical research communications 2002;290 (2):629-634 [PubMed]
• van Roermund C. W. T. Fatty acid beta-oxidation in Saccharomices cerevisae: new insights with implications for human diseases 2002. 120p. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wanders R. J. A., Tabak H. F.)
• Visser W. F., van Roermund C. W. T., Waterham H. R., Wanders R. J. A. Identification of human PMP34 as a peroxisomal ATP transporter Biochemical and biophysical research communications 2002;299 (3):494-497 [PubMed]
• Ferdinandusse Sacha, Meissner Thomas, Wanders Ronald J. A., Mayatepek Ertan Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes Biochemical and biophysical research communications 2002;293 (1):269-273 [PubMed]
• Rahbeeni Z., Vaz F. M., Al-Hussein K., Bucknall M. P., Ruiter J., Wanders R. J., Rashed M. S. Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency Journal of inherited metabolic disease 2002;25 (5):363-369 [PubMed]
• Wanders R. J. A., Duran M., Wijburg F. A. Inherited disorders of mitochondrial fatty acid beta-oxidationin: A. H. V. Schapira, S. DiMauro, editors. Mitochondrial disorders in neurology 2. Butterworth / Heinemann; 2002. p. 257-297, ISBN 9780750672887
• Frenkel Joost, Rijkers Ger T., Mandey Saskia H. L., Buurman Sandra W. M., Houten Sander M., Wanders Ronald J. A., Waterham Hans R., Kuis Wietse Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome Arthritis and rheumatism 2002;46 (10):2794-2803 [PubMed]
• Odievre M. H., Sevin C., Laurent J., Laboureau J. P., Rabier D., Brivet M., Roe C., Wanders R. J. A., Saudubray J. M. Long-chain 3-hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosis Acta paediatrica (Oslo, Norway 2002;91 (6):719-722 [PubMed]
• den Boer Margarethe E. J., Wanders Ronald J. A., Morris Andrew A. M., Ijlst Lodewijk, Heymans Hugo S. A., Wijburg Frits A. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients Pediatrics 2002;109 (1):99-104 [PubMed]
• Vaz F. M. Molecular and biochemical aspects of carnitine biosynthesis 2002. 112p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.)
• Motley Alison M., Brites Pedro, Gerez Lisya, Hogenhout Eveline, Haasjes Janet, Benne Rob, Tabak Henk F., Wanders Ronald J. A., Waterham Hans R. Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1 American journal of human genetics 2002;70 (3):612-624 [PubMed]
• Ferdinandusse S. New insights in peroxisomal beta-oxidation 2002. 136p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisor: Waterham H. R.)
• Mihalik Stephanie J., Steinberg Steven J., Pei Zhengtong, Park Joseph, Kim Do G., Heinzer Ann K., Dacremont Georges, Wanders Ronald J. A., Cuebas Dean A., Smith Kirby D., Watkins Paul A. Participation of two members of the very long-chain acyl-CoA synthetase family in bile acid synthesis and recycling Journal of biological chemistry 2002;277 (27):24771-24779 [PubMed]
• Valianpour Fredoen, Wanders Ronald J. A., Barth Peter G., Overmars Henk, van Gennip Albert H. Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients Clinical chemistry 2002;48 (9):1390-1397 [PubMed]
• Ferdinandusse S., van Grunsven E. G., Oostheim W., Denis S., Hogenhout E. M., IJlst L., van Roermund C. W. T., Waterham H. R., Goldfischer S., Wanders R. J. A. Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein American journal of human genetics 2002;70 (6):1589-1593 [PubMed]
• Ferdinandusse S., Rusch H., van Lint A. E. M., Dacremont G., Wanders R. J. A., Vreken P. Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders Journal of lipid research 2002;43 (3):438-444 [PubMed]
• Häberle J., Pauli S., Linnebank M., Kleijer W. J., Bakker H. D., Wanders R. J. A., Harms E., Koch H. G. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia Human genetics 2002;110 (4):327-333 [PubMed]
• Misery Laurent, Antoine Jean-Christophe, Touraine Renaud, Wanders Ronald, Maitre Séverine, Has Christina, Perrot Jean-Luc, Cambazard Frédéric Syndrome de Sjögren-Larsson Annales de médecine interne 2002;153 (4):280-282 [PubMed]
• Houten Sander M., Frenkel Joost, Rijkers Ger T., Wanders Ronald J. A., Kuis Wietse, Waterham Hans R. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome Human molecular genetics 2002;11 (25):3115-3124 [PubMed]

2001

• Kemp S., Pujol A., Waterham H. R., van Geel B. M., Boehm C. D., Raymond G. V., Cutting G. R., Wanders R. J., Moser H. W. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations Human mutation 2001;18 (6):499-515 [PubMed]
• Barić I., Sarnavka V., Fumić K., Maradin M., Begović D., Ruiter J. P., Wanders R. J. A new case of succinyl-CoA:acetoacetate transferase deficiency: favourable course despite very low residual activity Journal of inherited metabolic disease 2001;24 (1):81-82 [PubMed]
• Lopriore E., Gemke R. J., Verhoeven N. M., Jakobs C., Wanders R. J., Roeleveld-Versteeg A. B., Poll-The B. T. Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome European journal of pediatrics 2001;160 (2):101-104 [PubMed]
• Al-Aqeel A. I., Rashed M. S., Ruiter J. P., Al-Husseini H. F., Al-Amoudi M. S., Wanders R. J. Carnitine palmityl transferase I deficiency Saudi medical journal 2001;22 (11):1025-1029 [PubMed]
• Silva M. F., Selhorst J., Overmars H., van Gennip A. H., Maya M., Wanders R. J., de Almeida I. T., Duran M. Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS Clinical biochemistry 2001;34 (8):635-638 [PubMed]
• Frenkel J., Houten S. M., Waterham H. R., Wanders R. J., Rijkers G. T., Duran M., Kuijpers T. W., van Luijk W., Poll-The B. T., Kuis W. Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D Rheumatology (Oxford, England) 2001;40 (5):579-584 [PubMed]
• Willemsen M. A., IJlst L., Steijlen P. M., Rotteveel J. J., de Jong J. G., van Domburg P. H., Mayatepek E., Gabreëls F. J., Wanders R. J. Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome Brain 2001;124 (Part 7):1426-1437 [PubMed]
• Willemsen M. A., Rotteveel J. J., de Jong J. G., Wanders R. J., IJlst L., Hoffmann G. F., Mayatepek E. Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome Journal of the neurological sciences 2001;183 (1):61-67 [PubMed]
• Silva M. F., Ruiter J. P., IJlst L., Jakobs C., Duran M., de Almeida I. T., Wanders R. J. Differential effect of valproate and its Delta2- and Delta4-unsaturated metabolites, on the beta-oxidation rate of long-chain and medium-chain fatty acids Chemico-biological interactions 2001;137 (3):203-212 [PubMed]
• Walter C., Gootjes J., Mooijer P. A., Portsteffen H., Klein C., Waterham H. R., Barth P. G., Epplen J. T., Kunau W. H., Wanders R. J., Dodt G. Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels American journal of human genetics 2001;69 (1):35-48 [PubMed]
• Ofman R., Lajmir S., Wanders R. J. Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human gnpat gene and its use in the identification of novel mutations Biochemical and biophysical research communications 2001;281 (3):754-760 [PubMed]
• IJlst L., van Roermund C. W., Iacobazzi V., Oostheim W., Ruiter J. P., Williams J. C., Palmieri F., Wanders R. J. Functional analysis of mutant human carnitine acylcarnitine translocases in yeast Biochemical and biophysical research communications 2001;280 (3):700-706 [PubMed]
• van Roermund C. W., Drissen R., van den Berg M., IJlst L., Hettema E. H., Tabak H. F., Waterham H. R., Wanders R. J. Identification of a peroxisomal ATP carrier required for medium-chain fatty acid beta-oxidation and normal peroxisome proliferation in Saccharomyces cerevisiae Molecular and cellular biology 2001;21 (13):4321-4329 [PubMed]
• Jansen G. A., van den Brink D. M., Ofman R., Draghici O., Dacremont G., Wanders R. J. Identification of pristanal dehydrogenase activity in peroxisomes: conclusive evidence that the complete phytanic acid alpha-oxidation pathway is localized in peroxisomes Biochemical and biophysical research communications 2001;283 (3):674-679 [PubMed]
• Ferdinandusse S., Denis S., Mooijer P. A., Zhang Z., Reddy J. K., Spector A. A., Wanders R. J. Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid Journal of lipid research 2001;42 (12):1987-1995 [PubMed]
• Barth P. G., Gootjes J., Bode H., Vreken P., Majoie C. B., Wanders R. J. Late onset white matter disease in peroxisome biogenesis disorder Neurology 2001;57 (11):1949-1955 [PubMed]
• Di Rocco M., Caruso U., Waterham H. R., Picco P., Loy A., Wanders R. J. Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D Journal of inherited metabolic disease 2001;24 (3):411-412 [PubMed]
• Vaz F. M., Ofman R., Westinga K., Back J. W., Wanders R. J. Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis Journal of biological chemistry 2001;276 (36):33512-33517 [PubMed]
• Zschocke J., Schulze A., Lindner M., Fiesel S., Olgemöller K., Hoffmann G. F., Penzien J., Ruiter J. P., Wanders R. J., Mayatepek E. Molecular and functional characterisation of mild MCAD deficiency Human genetics 2001;108 (5):404-408 [PubMed]
• Möller G., van Grunsven E. G., Wanders R. J., Adamski J. Molecular basis of D-bifunctional protein deficiency Molecular and cellular endocrinology 2001;171 (1-2):61-70 [PubMed]
• Waterham H. R., Koster J., Romeijn G. J., Hennekam R. C., Vreken P., Andersson H. C., Fitzpatrick D. R., Kelley R. I., Wanders R. J. Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis American journal of human genetics 2001;69 (4):685-694 [PubMed]
• Hennekam R. C., Waterham H. R., Wanders R. J., Aronson D. C. No cholesterol metabolism anomalies detectable in infants with hypertrophic pyloric stenosis American journal of medical genetics 2001;99 (3):256-257 [PubMed]
• Jira P. E., Wanders R. J., Smeitink J. A., de Jong J., Wevers R. A., Oostheim W., Tuerlings J. H., Hennekam R. C., Sengers R. C., Waterham H. R. Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome Annals of human genetics 2001;65 (Part 3):229-236 [PubMed]
• Houten S. M., Koster J., Romeijn G. J., Frenkel J., Di Rocco M., Caruso U., Landrieu P., Kelley R. I., Kuis W., Poll-The B. T., Gibson K. M., Wanders R. J., Waterham H. R. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome European journal of human genetics 2001;9 (4):253-259 [PubMed]
• Houten S. M., Koster J., Romeijn G. J., Frenkel J., Di Rocco M., Caruso U., Landrieu P., Kelley R. I., Kuis W., Poll-The B. T., Gibson K. M., Wanders R. J. A., Waterham H. R. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (vol 9, pg 253, 2001) European journal of human genetics 2001;9 (8):651
• Tang N. L., Hui J., Law L. K., To K. F., Mak T. W., Cheung K. L., Vreken P., Wanders R. J., Fok T. F. Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong Clinica chimica acta; international journal of clinical chemistry 2001;313 (1-2):195-201 [PubMed]
• Wanders R. J., Vreken P., Ferdinandusse S., Jansen G. A., Waterham H. R., van Roermund C. W., van Grunsven E. G. Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases Biochemical Society transactions 2001;29 (Part 2):250-267 [PubMed]
• Ferdinandusse S., Overmars H., Denis S., Waterham H. R., Wanders R. J., Vreken P. Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency Journal of lipid research 2001;42 (1):137-141 [PubMed]
• Wanders R. J., Jansen G. A., Skjeldal O. H. Refsum disease, peroxisomes and phytanic acid oxidation: a review Journal of neuropathology and experimental neurology 2001;60 (11):1021-1031 [PubMed]
• Assies J., Lieverse R., Vreken P., Wanders R. J., Dingemans P. M., Linszen D. H. Significantly reduced docosahexaenoic and docosapentaenoic acid concentrations in erythrocyte membranes from schizophrenic patients compared with a carefully matched control group Biological psychiatry 2001;49 (6):510-522 [PubMed]
• Silva M. F., Ruiter J. P., IJlst L., Allers P., ten Brink H. J., Jakobs C., Duran M., Tavares de Almeida I., Wanders R. J. Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolites Analytical biochemistry 2001;290 (1):60-67 [PubMed]
• Dansen T. B., Pap E. H. W., Wanders R. J., Wirtz K. W. Targeted fluorescent probes in peroxisome function Histochemical journal 2001;33 (2):65-69 [PubMed]
• Silva M. F., Jakobs C., Duran M., de Almeida I. T., Wanders R. J. Valproate induces in vitro accumulation of long-chain fatty acylcarnitines Molecular genetics and metabolism 2001;73 (4):358-361 [PubMed]

2000

• Dunckelmann R. J., Ebinger F., Schulze A., Wanders R. J., Rating D., Mayatepek E. 2-ketoglutarate dehydrogenase deficiency with intermittent 2-ketoglutaric aciduria Neuropediatrics 2000;31 (1):35-38 [PubMed]
• Sztriha L., Al-Gazali L. I., Wanders R. J., Ofman R., Nork M., Lestringant G. G. Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency) Developmental medicine and child neurology 2000;42 (7):492-495 [PubMed]
• Aalfs C. M., Salieb-Beugelaar G. B., Wanders R. J., Mannens M. M., Wijburg F. A. A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis Human mutation 2000;16 (1):18-22 [PubMed]
• Vreken P., Valianpour F., Overmars H., Barth P. G., Selhorst J. J., van Gennip A. H., Wanders R. J. Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders Journal of inherited metabolic disease 2000;23 (4):429-433 [PubMed]
• Baumgartner M. R., Jansen G. A., Verhoeven N. M., Mooyer P. A., Jakobs C., Roels F., Espeel M., Fourmaintraux A., Bellet H., Wanders R. J., Saudubray J. M. Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution Annals of neurology 2000;47 (1):109-113 [PubMed]
• Waterham H. R., Wanders R. J. Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2000;1529 (1-3):340-356 [PubMed]
• Houten S. M., Wanders R. J., Waterham H. R. Biochemical and genetic aspects of mevalonate kinase and its deficiency BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2000;1529 (1-3):19-32 [PubMed]
• van Ommen C. H., Peters M., Barth P. G., Vreken P., Wanders R. J., Jaeken J. Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances Journal of pediatrics 2000;136 (3):400-403 [PubMed]
• Röschinger W., Muntau A. C., Duran M., Dorland L., IJlst L., Wanders R. J., Roscher A. A. Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle Clinica chimica acta; international journal of clinical chemistry 2000;298 (1-2):55-68 [PubMed]
• Skladal D., Sass J. O., Geiger H., Geiger R., Mann C., Vreken P., Wanders R. J., Trawöger R. Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects Journal of pediatric gastroenterology and nutrition 2000;31 (4):448-452 [PubMed]
• Willemsen M. A., de Jong J. G., van Domburg P. H., Rotteveel J. J., Wanders R. J., Mayatepek E. Defective inactivation of leukotriene B4 in patients with Sjögren-Larsson syndrome Journal of pediatrics 2000;136 (2):258-260 [PubMed]
• Vreken P., Valianpour F., Nijtmans L. G., Grivell L. A., Plecko B., Wanders R. J., Barth P. G. Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome Biochemical and biophysical research communications 2000;279 (2):378-382 [PubMed]
• Christiaens G. C., de Pater J. M., Stoutenbeek P., Drogtrop A., Wanders R. J., Beemer F. A. First trimester nuchal anomalies as a prenatal sign of Zellweger syndrome Prenatal diagnosis 2000;20 (6):520-521 [PubMed]
• Innes A. M., Seargeant L. E., Balachandra K., Roe C. R., Wanders R. J., Ruiter J. P., Casiro O., Grewar D. A., Greenberg C. R. Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy Pediatric research 2000;47 (1):43-45 [PubMed]
• Kerckaert I., Poll-The B. T., Espeel M., Duran M., Roeleveld A. B., Wanders R. J., Roels F. Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency Virchows Archiv 2000;436 (5):459-465 [PubMed]
• den Boer M. E., IJlst L., Wijburg F. A., Oostheim W., van Werkhoven M. A., van Pampus M. G., Heymans H. S., Wanders R. J. Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low Pediatric research 2000;48 (2):151-154 [PubMed]
• Jansen G. A., Hogenhout E. M., Ferdinandusse S., Waterham H. R., Ofman R., Jakobs C., Skjeldal O. H., Wanders R. J. Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease Human molecular genetics 2000;9 (8):1195-1200 [PubMed]
• Drenth J. P., Waterham H. R., Kuis W., Houten S. M., Frenkel J., Wanders R. J., Poll-The B. T., van der Meer J. W. Identificatie van het gen voor het hyper-IgD-syndroom: een schoolvoorbeeld van moderne genetica Nederlands tijdschrift voor geneeskunde 2000;144 (17):782-785 [PubMed]
• Waterham H. R., Oostheim W., Romeijn G. J., Wanders R. J., Hennekam R. C. Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome Journal of medical genetics 2000;37 (5):387-389 [PubMed]
• Andresen B. S., Christensen E., Corydon T. J., Bross P., Pilgaard B., Wanders R. J., Ruiter J. P., Simonsen H., Winter V., Knudsen I., Schroeder L. D., Gregersen N., Skovby F. Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism American journal of human genetics 2000;67 (5):1095-1103 [PubMed]
• Wanders R. J., van Grunsven E. G., Jansen G. A. Lipid metabolism in peroxisomes: enzymology, functions and dysfunctions of the fatty acid alpha- and beta-oxidation systems in humans Biochemical Society transactions 2000;28 (2):141-149 [PubMed]
• van Maldergem L., Tuerlinckx D., Wanders R. J., Vianey-Saban C., van Hoof F., Martin J. J., Fourneau C., Gillerot Y., Bachy A. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings European journal of pediatrics 2000;159 (1-2):108-112 [PubMed]
• Frenkel J., Houten S. M., Waterham H. R., Wanders R. J., Rijkers G. T., Kimpen J. L., Duran R., Poll-The B. T., Kuis W. Mevalonate kinase deficiency and Dutch type periodic fever Clinical and experimental rheumatology 2000;18 (4):525-532 [PubMed]
• Poll-The B. T., Frenkel J., Houten S. M., Kuis W., Duran M., de Koning T. J., Dorland L., de Barse M. M., Romeijn G. J., Wanders R. J., Waterham H. R. Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome Journal of inherited metabolic disease 2000;23 (4):363-366 [PubMed]
• Vaz F. M., Fouchier S. W., Ofman R., Sommer M., Wanders R. J. Molecular and biochemical characterization of rat gamma-trimethylaminobutyraldehyde dehydrogenase and evidence for the involvement of human aldehyde dehydrogenase 9 in carnitine biosynthesis Journal of biological chemistry 2000;275 (10):7390-7394 [PubMed]
• Houten S. M., Frenkel J., Kuis W., Wanders R. J., Poll-The B. T., Waterham H. R. Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene Journal of inherited metabolic disease 2000;23 (4):367-370 [PubMed]
• Watanabe H., Orii K. E., Fukao T., Song X. Q., Aoyama T., IJlst L., Ruiter J., Wanders R. J., Kondo N. Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping Human mutation 2000;15 (5):430-438 [PubMed]
• IJlst L., de Kromme I., Oostheim W., Wanders R. J. Molecular cloning and expression of human L-pipecolate oxidase Biochemical and biophysical research communications 2000;270 (3):1101-1105 [PubMed]
• Shimozawa N., Zhang Z., Imamura A., Suzuki Y., Fujiki Y., Tsukamoto T., Osumi T., Aubourg P., Wanders R. J., Kondo N. Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient Biochemical and biophysical research communications 2000;268 (1):31-35 [PubMed]
• Hurvitz H., Klar A., Korn-Lubetzki I., Wanders R. J., Elpeleg O. N. Muscular carnitine palmitoyltransferase II deficiency in infancy Pediatric neurology 2000;22 (2):148-150 [PubMed]
• Ferdinandusse S., Denis S., Clayton P. T., Graham A., Rees J. E., Allen J. T., McLean B. N., Brown A. Y., Vreken P., Waterham H. R., Wanders R. J. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy Nature genetics 2000;24 (2):188-191 [PubMed]
• Ferdinandusse S., Denis S., van Berkel E., Dacremont G., Wanders R. J. Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx). Activity measurements in liver and fibroblasts using a newly developed method Journal of lipid research 2000;41 (3):336-342 [PubMed]
• Dansen T. B., Wirtz K. W., Wanders R. J., Pap E. H. Peroxisomes in human fibroblasts have a basic pH Nature cell biology 2000;2 (1):51-53 [PubMed]
• Wanders R. J. Peroxisomes, lipid metabolism, and human disease Cell biochemistry and biophysics 2000;32 Spring:89-106 [PubMed]
• van Roermund C. W., Tabak H. F., van den Berg M., Wanders R. J., Hettema E. H. Pex11p plays a primary role in medium-chain fatty acid oxidation, a process that affects peroxisome number and size in Saccharomyces cerevisiae Journal of cell biology 2000;150 (3):489-498 [PubMed]
• Jansen G. A., Denis S., Verhoeven N. M., Jakobs C., Wanders R. J. Phytanic acid alpha-oxidation in man: identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome Journal of inherited metabolic disease 2000;23 (4):421-424 [PubMed]
• Zomer A. W., Jansen G. A., van der Burg B., Verhoeven N. M., Jakobs C., van der Saag P. T., Wanders R. J., Poll-The B. T. Phytanoyl-CoA hydroxylase activity is induced by phytanic acid European Journal of Biochemistry / FEBS 2000;267 (13):4063-4067 [PubMed]
• Zomer A. W., van der Burg B., Jansen G. A., Wanders R. J., Poll-The B. T., van der Saag P. T. Pristanic acid and phytanic acid: naturally occurring ligands for the nuclear receptor peroxisome proliferator-activated receptor alpha Journal of lipid research 2000;41 (11):1801-1807 [PubMed]
• Zschocke J., Ruiter J. P., Brand J., Lindner M., Hoffmann G. F., Wanders R. J., Mayatepek E. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism Pediatric research 2000;48 (6):852-855 [PubMed]
• Das A. M., Fingerhut R., Wanders R. J., Ullrich K. Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls European journal of pediatrics 2000;159 (4):243-246 [PubMed]
• Willemsen M. A., de Jong J. G., van Domburg P. H., Rotteveel J. J., Wanders R. J., Mayatepek E. Sjögren-Larsson syndrome Journal of pediatrics 2000;136 (2):261 [PubMed]
• Ferdinandusse S., Denis S., IJlst L., Dacremont G., Waterham H. R., Wanders R. J. Subcellular localization and physiological role of alpha-methylacyl-CoA racemase Journal of lipid research 2000;41 (11):1890-1896 [PubMed]
• Fukao T., Mitchell G. A., Song X. Q., Nakamura H., Kassovska-Bratinova S., Orii K. E., Wraith J. E., Besley G., Wanders R. J., Niezen-Koning K. E., Berry G. T., Palmieri M., Kondo N. Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations Genomics 2000;68 (2):144-151 [PubMed]
• Imamura A., Shimozawa N., Suzuki Y., Zhang Z., Tsukamoto T., Fujiki Y., Orii T., Osumi T., Wanders R. J., Kondo N. Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1 Pediatric research 2000;48 (4):541-545 [PubMed]

1999

• Rzeski M., Kuran W., Mierzewska H., Vreken P., Wanders R. J., Zaremba J. Adrenomieloneuropatia--jedna z postaci adrenoleukodystrofii sprzezonej z chromosomem X--badania rodziny Neurologia i neurochirurgia polska 1999;33 (5):1173-1185 [PubMed]
• Biermann J., Just W. W., Wanders R. J., van den Bosch H. Alkyl-dihydroxyacetone phosphate synthase and dihydroxyacetone phosphate acyltransferase form a protein complex in peroxisomes European Journal of Biochemistry / FEBS 1999;261 (2):492-499 [PubMed]
• Verhoeven N. M., Schor D. S., Struys E. A., Jansen E. E., ten Brink H. J., Wanders R. J., Jakobs C. Analysis of pristanic acid beta-oxidation intermediates in plasma from healthy controls and patients affected with peroxisomal disorders by stable isotope dilution gas chromatography mass spectrometry Journal of lipid research 1999;40 (2):260-266 [PubMed]
• Willemsen M. A., Steijlen P. M., de Jong J. G., Rotteveel J. J., IJlst L., van Werkhoven M. A., Wanders R. J. A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjögren-Larsson syndrome Journal of investigative dermatology 1999;112 (5):827-828 [PubMed]
• Al Aqeel A. I., Rashed M. S., Wanders R. J. Carnitine-acylcarnitine translocase deficiency is a treatable disease Journal of inherited metabolic disease 1999;22 (3):271-275 [PubMed]
• Vaz F. M., van Gool S., Ofman R., IJlst L., Wanders R. J. Carnitine biosynthesis. Purification of gamma-butyrobetaine hydroxylase from rat liver Advances in experimental medicine and biology 1999;466:117-124 [PubMed]
• Lissens W., Vreken P., Barth P. G., Wijburg F. A., Ruitenbeek W., Wanders R. J., Seneca S., Liebaers I., de Meirleir L. Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene European journal of pediatrics 1999;158 (10):853-857 [PubMed]
• Möller G., Leenders F., van Grunsven E. G., Dolez V., Qualmann B., Kessels M. M., Markus M., Krazeisen A., Husen B., Wanders R. J., de Launoit Y., Adamski J. Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV Journal of steroid biochemistry and molecular biology 1999;69 (1-6):441-446 [PubMed]
• Andresen B. S., Olpin S., Poorthuis B. J., Scholte H. R., Vianey-Saban C., Wanders R., IJlst L., Morris A., Pourfarzam M., Bartlett K., Baumgartner E. R., deKlerk J. B., Schroeder L. D., Corydon T. J., Lund H., Winter V., Bross P., Bolund L., Gregersen N. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency American journal of human genetics 1999;64 (2):479-494 [PubMed]
• Houstek J., Klement P., Hermanská J., Antonická H., Houstková H., Stratilová L., Wanders R. J., Zeman J. Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies Prenatal diagnosis 1999;19 (6):552-558 [PubMed]
• Shimozawa N., Imamura A., Zhang Z., Suzuki Y., Orii T., Tsukamoto T., Osumi T., Fujiki Y., Wanders R. J., Besley G., Kondo N. Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders Journal of medical genetics 1999;36 (10):779-781 [PubMed]
• van Grunsven E. G., van Berkel E., Denis S., Mooijer P. A., Wanders R. J. D-hydroxyacyl-CoA dehydrogenase deficiency. Identification of a new peroxisomal disorder with implications for other disorders of beta-oxidation Advances in experimental medicine and biology 1999;466:365-369 [PubMed]
• Pineda M., Girós M., Roels F., Espeel M., Ruiz M., Moser A., Moser H. W., Wanders R. J., Pavia C., Conill J., Aracil A., Amat L., Pampols T. Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism Journal of child neurology 1999;14 (7):434-439 [PubMed]
• Wanders R. J., Vreken P., den Boer M. E., Wijburg F. A., van Gennip A. H., IJlst L. Disorders of mitochondrial fatty acyl-CoA beta-oxidation Journal of inherited metabolic disease 1999;22 (4):442-487 [PubMed]
• Wanders R. J., Mooijer P. A., Dekker C., Suzuki Y., Shimozawa N. Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency) Journal of inherited metabolic disease 1999;22 (3):314-318 [PubMed]
• Andresen B. S., Olpin S., Kvittingen E. A., Augoustides-Savvopoulou P., Lindhout D., Halley D. J., Vianey-Saban C., Wanders R. J., IJlst L., Schroeder L. D., Bolund L., Gregersen N. DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency Journal of inherited metabolic disease 1999;22 (3):281-285 [PubMed]
• van Grunsven E. G., Mooijer P. A., Aubourg P., Wanders R. J. Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency Human molecular genetics 1999;8 (8):1509-1516 [PubMed]
• de Vet E. C., IJlst L., Oostheim W., Dekker C., Moser H. W., van den Bosch H., Wanders R. J. Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities Journal of lipid research 1999;40 (11):1998-2003 [PubMed]
• Bennett M. J., Spotswood S. D., Ross K. F., Comfort S., Koonce R., Boriack R. L., IJlst L., Wanders R. J. Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation Pediatric and developmental pathology 1999;2 (4):337-345 [PubMed]
• Shimozawa N., Zhang Z., Suzuki Y., Imamura A., Tsukamoto T., Osumi T., Fujiki Y., Orii T., Barth P. G., Wanders R. J., Kondo N. Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients Biochemical and biophysical research communications 1999;262 (2):504-508 [PubMed]
• Wanders R. J. Functions and dysfunctions of peroxisomes in fatty acid alpha- and beta-oxidation. New insights Advances in experimental medicine and biology 1999;466:283-299 [PubMed]
• Zhang Z., Suzuki Y., Shimozawa N., Fukuda S., Imamura A., Tsukamoto T., Osumi T., Fujiki Y., Orii T., Wanders R. J., Barth P. G., Moser H. W., Paton B. C., Besley G. T., Kondo N. Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders Human mutation 1999;13 (6):487-496 [PubMed]
• Dansen T. B., Westerman J., Wouters F. S., Wanders R. J., van Hoek A., Gadella T. W., Wirtz K. W. High-affinity binding of very-long-chain fatty acyl-CoA esters to the peroxisomal non-specific lipid-transfer protein (sterol carrier protein-2) Biochemical journal 1999;339 (1):193-199 [PubMed]
• Matsuzono Y., Kinoshita N., Tamura S., Shimozawa N., Hamasaki M., Ghaedi K., Wanders R. J., Suzuki Y., Kondo N., Fujiki Y. Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly Proceedings of the National Academy of Sciences of the United States of America 1999;96 (5):2116-2121 [PubMed]
• Ofman R., Hogenhout E. M., Wanders R. J. Identification and characterization of the mouse cDNA encoding acyl-CoA:dihydroxyacetone phosphate acyltransferase BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 1999;1439 (1):89-94 [PubMed]
• Houten S. M., Romeijn G. J., Koster J., Gray R. G., Darbyshire P., Smit G. P., de Klerk J. B., Duran M., Gibson K. M., Wanders R. J., Waterham H. R. Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis Human molecular genetics 1999;8 (8):1523-1528 [PubMed]
• Vaz F. M., Scholte H. R., Ruiter J., Hussaarts-Odijk L. M., Pereira R. R., Schweitzer S., de Klerk J. B., Waterham H. R., Wanders R. J. Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency Human genetics 1999;105 (1-2):157-161 [PubMed]
• Biermann J., Gootjes J., Humbel B. M., Dansen T. B., Wanders R. J., van den Bosch H. Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders European journal of cell biology 1999;78 (5):339-348 [PubMed]
• Willemsen M. A., Rotteveel J. J., Steijlen P. M., Wanders R. J. Incomplete Sjögren-Larsson syndrome in two Japanese siblings? Dermatology (Basel, Switzerland) 1999;199 (2):187-188 [PubMed]
• Toyama R., Mukai S., Itagaki A., Tamura S., Shimozawa N., Suzuki Y., Kondo N., Wanders R. J., Fujiki Y. Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants Human molecular genetics 1999;8 (9):1673-1681 [PubMed]
• Thiel C., Baudach S., Schnackenberg U., Vreken P., Wanders R. J. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea Journal of inherited metabolic disease 1999;22 (7):839-840 [PubMed]
• Sacksteder K. A., Morrell J. C., Wanders R. J., Matalon R., Gould S. J. MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency Journal of biological chemistry 1999;274 (35):24461-24468 [PubMed]
• IJlst L., Oostheim W., van Werkhoven M., Willemsen M. A., Wanders R. J. Molecular basis of Sjögren-Larsson syndrome: frequency of the 1297-1298 del GA and 943C-->T mutation in 29 patients Journal of inherited metabolic disease 1999;22 (3):319-321 [PubMed]
• van Roermund C. W., Hettema E. H., van den Berg M., Tabak H. F., Wanders R. J. Molecular characterization of carnitine-dependent transport of acetyl-CoA from peroxisomes to mitochondria in Saccharomyces cerevisiae and identification of a plasma membrane carnitine transporter, Agp2p EMBO journal 1999;18 (21):5843-5852 [PubMed]
• Ferdinandusse S., Mulders J., IJlst L., Denis S., Dacremont G., Waterham H. R., Wanders R. J. Molecular cloning and expression of human carnitine octanoyltransferase: evidence for its role in the peroxisomal beta-oxidation of branched-chain fatty acids Biochemical and biophysical research communications 1999;263 (1):213-218 [PubMed]
• Houten S. M., Kuis W., Duran M., de Koning T. J., van Royen-Kerkhof A., Romeijn G. J., Frenkel J., Dorland L., de Barse M. M., Huijbers W. A., Rijkers G. T., Waterham H. R., Wanders R. J., Poll-The B. T. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome Nature genetics 1999;22 (2):175-177 [PubMed]
• Tang N. L., Ganapathy V., Wu X., Hui J., Seth P., Yuen P. M., Wanders R. J., Fok T. F., Hjelm N. M. Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency Human molecular genetics 1999;8 (4):655-660 [PubMed]
• Shimozawa N., Suzuki Y., Zhang Z., Imamura A., Toyama R., Mukai S., Fujiki Y., Tsukamoto T., Osumi T., Orii T., Wanders R. J., Kondo N. Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders Human molecular genetics 1999;8 (6):1077-1083 [PubMed]
• van Grunsven E. G., van Berkel E., Mooijer P. A., Watkins P. A., Moser H. W., Suzuki Y., Jiang L. L., Hashimoto T., Hoefler G., Adamski J., Wanders R. J. Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis American journal of human genetics 1999;64 (1):99-107 [PubMed]
• Wanders R. J. Peroxisomal disorders: clinical, biochemical, and molecular aspects Neurochemical research 1999;24 (4):565-580 [PubMed]
• Liu Y., Björkman J., Urquhart A., Wanders R. J., Crane D. I., Gould S. J. PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders American journal of human genetics 1999;65 (3):621-634 [PubMed]
• Jansen G. A., Verhoeven N. M., Denis S., Romeijn G., Jakobs C., ten Brink H. J., Wanders R. J. Phytanic acid alpha-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 1999;1440 (2-3):176-182 [PubMed]
• Jansen G. A., Ferdinandusse S., Hogenhout E. M., Verhoeven N. M., Jakobs C., Wanders R. J. Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease Advances in experimental medicine and biology 1999;466:371-376 [PubMed]
• Jansen G. A., Ofman R., Denis S., Ferdinandusse S., Hogenhout E. M., Jakobs C., Wanders R. J. Phytanoyl-CoA hydroxylase from rat liver. Protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid alpha-oxidation Journal of lipid research 1999;40 (12):2244-2254 [PubMed]
• Rinat C., Wanders R. J., Drukker A., Halle D., Frishberg Y. Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group Journal of the American Society of Nephrology 1999;10 (11):2352-2358 [PubMed]
• van Geel B. M., Assies J., Haverkort E. B., Koelman J. H., Verbeeten B., Wanders R. J., Barth P. G. Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil" Journal of neurology, neurosurgery, and psychiatry 1999;67 (3):290-299 [PubMed]
• Ventura F. V., Costa C. G., Struys E. A., Ruiter J., Allers P., IJlst L., Tavares de Almeida I., Duran M., Jakobs C., Wanders R. J. Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects Clinica chimica acta; international journal of clinical chemistry 1999;281 (1-2):1-17 [PubMed]
• Vreken P., van Lint A. E., Bootsma A. H., Overmars H., Wanders R. J., van Gennip A. H. Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects Journal of inherited metabolic disease 1999;22 (3):302-306 [PubMed]
• Bootsma A. H., Overmars H., van Rooij A., van Lint A. E., Wanders R. J., van Gennip A. H., Vreken P. Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: application for selective screening of peroxisomal disorders Journal of inherited metabolic disease 1999;22 (3):307-310 [PubMed]
• Vreken P., van Lint A. E., Bootsma A. H., Overmars H., Wanders R. J., van Gennip A. H. Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma Advances in experimental medicine and biology 1999;466:327-337 [PubMed]
• van Domburg P. H., Willemsen M. A., Rotteveel J. J., de Jong J. G., Thijssen H. O., Heerschap A., Cruysberg J. R., Wanders R. J., Gabreëls F. J., Steijlen P. M. Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients Neurology 1999;52 (7):1345-1352 [PubMed]
• de Jongh S., Vreken P., IJst L., Wanders R. J., Jakobs C., Bakker H. D. Spontaneous pregnancy in a patient with classical galactosaemia Journal of inherited metabolic disease 1999;22 (6):754-755 [PubMed]
• Biermann J., Gootjes J., Wanders R. J., van den Bosch H. Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts IUBMB life 1999;48 (6):635-639 [PubMed]
• Barth P. G., Wanders R. J., Vreken P., Janssen E. A., Lam J., Baas F. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060) Journal of inherited metabolic disease 1999;22 (4):555-567 [PubMed]
• Barth P. G., Wanders R. J., Vreken P. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060 Journal of pediatrics 1999;135 (3):273-276 [PubMed]

1998

• Wanders R. J., Denis S., Ruiter J. P., IJlst L., Dacremont G. 2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation BIOCHIMICA ET BIOPHYSICA ACTA-LIPIDS AND LIPID METABOLISM 1998;1393 (1):35-40 [PubMed]
• Ofman R., Hettema E. H., Hogenhout E. M., Caruso U., Muijsers A. O., Wanders R. J. Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2 Human molecular genetics 1998;7 (5):847-853 [PubMed]
• Wanders R. J. A happier sequel to Lorenzo's Oil? Nature medicine 1998;4 (11):1245-1246 [PubMed]
• de Vet E. C., IJlst L., Oostheim W., Wanders R. J., van den Bosch H. Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency Journal of biological chemistry 1998;273 (17):10296-10301 [PubMed]
• Schmidt-Sommerfeld E., Bobrowski P. J., Penn D., Rhead W. J., Wanders R. J., Bennett M. J. Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders Pediatric research 1998;44 (2):210-214 [PubMed]
• Casale C. H., Casals N., Pié J., Zapater N., Pérez-Cerdá C., Merinero B., Martínez-Pardo M., García-Peñas J. J., García-Gonzalez J. M., Lama R., Poll-The B. T., Smeitink J. A., Wanders R. J., Ugarte M., Hegardt F. G. A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients Archives of biochemistry and biophysics 1998;349 (1):129-137 [PubMed]
• van Grunsven E. G., van Berkel E., Lemonde H., Clayton P. T., Wanders R. J. Bifunctional protein deficiency: complementation within the same group suggesting differential enzyme defects and clues to the underlying basis Journal of inherited metabolic disease 1998;21 (3):298-301 [PubMed]
• Huizing M., Wendel U., Ruitenbeek W., Iacobazzi V., IJlst L., Veenhuizen P., Savelkoul P., van den Heuvel L. P., Smeitink J. A., Wanders R. J., Trijbels J. M., Palmieri F. Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient Journal of inherited metabolic disease 1998;21 (3):262-267 [PubMed]
• Vaz F. M., van Gool S., Ofman R., IJlst L., Wanders R. J. Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase Biochemical and biophysical research communications 1998;250 (2):506-510 [PubMed]
• Ventura F. V., IJlst L., Ruiter J., Ofman R., Costa C. G., Jakobs C., Duran M., Tavares de Almeida I., Bieber L. L., Wanders R. J. Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates--evidence for a reverse carnitine cycle in mitochondria European Journal of Biochemistry / FEBS 1998;253 (3):614-618 [PubMed]
• Jansen G. A., Mihalik S. J., Watkins P. A., Jakobs C., Moser H. W., Wanders R. J. Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders Clinica chimica acta; international journal of clinical chemistry 1998;271 (2):203-211 [PubMed]
• Wanders R. J., Romeijn G. J. Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata Journal of inherited metabolic disease 1998;21 (3):309-312 [PubMed]
• Baumgartner M. R., Poll-The B. T., Verhoeven N. M., Jakobs C., Espeel M., Roels F., Rabier D., Levade T., Rolland M. O., Martinez M., Wanders R. J., Saudubray J. M. Clinical approach to inherited peroxisomal disorders: a series of 27 patients Annals of neurology 1998;44 (5):720-730 [PubMed]
• Mayatepek E., Wanders R. J. Defective oxidation of hydroxyeicosatetraenoic acids in the liver of patients with Zellweger syndrome Journal of inherited metabolic disease 1998;21 (3):295-297 [PubMed]
• Seedorf U., Raabe M., Ellinghaus P., Kannenberg F., Fobker M., Engel T., Denis S., Wouters F., Wirtz K. W., Wanders R. J., Maeda N., Assmann G. Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function Genes & development 1998;12 (8):1189-1201 [PubMed]
• Baumgartner M. R., Verhoeven N. M., Jakobs C., Roels F., Espeel M., Martinez M., Rabier D., Wanders R. J., Saudubray J. M. Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease Neurology 1998;51 (5):1427-1432 [PubMed]
• Wanders R. J., Romeijn G. J. Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis Biochemical and biophysical research communications 1998;247 (3):663-667 [PubMed]
• Shimozawa N., Suzuki Y., Zhang Z., Imamura A., Kondo N., Kinoshita N., Fujiki Y., Tsukamoto T., Osumi T., Imanaka T., Orii T., Beemer F., Mooijer P., Dekker C., Wanders R. J. Genetic basis of peroxisome-assembly mutants of humans, Chinese hamster ovary cells, and yeast: identification of a new complementation group of peroxisome-biogenesis disorders apparently lacking peroxisomal-membrane ghosts American journal of human genetics 1998;63 (6):1898-1903 [PubMed]
• Mitchell G. A., Ozand P. T., Robert M. F., Ashmarina L., Roberts J., Gibson K. M., Wanders R. J., Wang S., Chevalier I., Plöchl E., Miziorko H. HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q American journal of human genetics 1998;62 (2):295-300 [PubMed]
• Wanders R. J., Denis S., van Berkel E., Wouters F., Wirtz K. W., Seedorf U. Identification of the newly discovered 58 kDa peroxisomal thiolase SCPx as the main thiolase involved in both pristanic acid and trihydroxycholestanoic acid oxidation: implications for peroxisomal beta-oxidation disorders Journal of inherited metabolic disease 1998;21 (3):302-305 [PubMed]
• Barth P. G., Wanders R. J., Ruitenbeek W., Roe C., Scholte H. R., van der Harten H., van Moorsel J., Duran M., Dingemans K. P. Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch families Neuromuscular disorders 1998;8 (5):296-304 [PubMed]
• Verhoeven N. M., Jakobs C., Carney G., Somers M. P., Wanders R. J., Rizzo W. B. Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid FEBS letters 1998;429 (3):225-228 [PubMed]
• Barth P. G., Wanders R. J., Scholte H. R., Abeling N., Jakobs C., Schutgens R. B., Vreken P. L-2-hydroxyglutaric aciduria and lactic acidosis Journal of inherited metabolic disease 1998;21 (3):251-254 [PubMed]
• Ventura F. V., Ruiter J. P., IJlst L., de Almeida I. T., Wanders R. J. Lactic acidosis in long-chain fatty acid beta-oxidation disorders Journal of inherited metabolic disease 1998;21 (6):645-654 [PubMed]
• Wanders R. J., Tager J. M. Lipid metabolism in peroxisomes in relation to human disease Molecular aspects of medicine 1998;19 (2):69-154 [PubMed]
• Ibdah J. A., Tein I., Dionisi-Vici C., Bennett M. J., IJlst L., Gibson B., Wanders R. J., Strauss A. W. Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation Journal of clinical investigation 1998;102 (6):1193-1199 [PubMed]
• IJlst L., Mandel H., Oostheim W., Ruiter J. P., Gutman A., Wanders R. J. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency Journal of clinical investigation 1998;102 (3):527-531 [PubMed]
• Jansen G. A., Ferdinandusse S., Skjeldal O. H., Stokke O., de Groot C. J., Jakobs C., Wanders R. J. Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA Journal of inherited metabolic disease 1998;21 (3):288-291 [PubMed]
• Brites P., Motley A., Hogenhout E., Hettema E., Wijburg F., Heijmans H. S., Tabak H. F., Distel B., Wanders R. J. Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients Journal of inherited metabolic disease 1998;21 (3):306-308 [PubMed]
• Kinoshita N., Ghaedi K., Shimozawa N., Wanders R. J., Matsuzono Y., Imanaka T., Okumoto K., Suzuki Y., Kondo N., Fujiki Y. Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (Peroxisomal ghosts), representing a novel complementation group in mammals Journal of biological chemistry 1998;273 (37):24122-24130 [PubMed]
• van Roermund C. W., Hettema E. H., Kal A. J., van den Berg M., Tabak H. F., Wanders R. J. Peroxisomal beta-oxidation of polyunsaturated fatty acids in Saccharomyces cerevisiae: isocitrate dehydrogenase provides NADPH for reduction of double bonds at even positions EMBO journal 1998;17 (3):677-687 [PubMed]
• van Grunsven E. G., van Berkel E., IJlst L., Vreken P., de Klerk J. B., Adamski J., Lemonde H., Clayton P. T., Cuebas D. A., Wanders R. J. Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency Proceedings of the National Academy of Sciences of the United States of America 1998;95 (5):2128-2133 [PubMed]
• Shimozawa N., Suzuki Y., Zhang Z., Imamura A., Tsukamoto T., Osumi T., Tateishi K., Okumoto K., Fujiki Y., Orii T., Barth P. G., Wanders R. J., Kondo N. Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13 Biochemical and biophysical research communications 1998;243 (2):368-371 [PubMed]
• Okumoto K., Shimozawa N., Kawai A., Tamura S., Tsukamoto T., Osumi T., Moser H., Wanders R. J., Suzuki Y., Kondo N., Fujiki Y. PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p Molecular and cellular biology 1998;18 (7):4324-4336 [PubMed]
• Verhoeven N. M., Roe D. S., Kok R. M., Wanders R. J., Jakobs C., Roe C. R. Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts Journal of lipid research 1998;39 (1):66-74 [PubMed]
• Mandel H., Sharf R., Berant M., Wanders R. J., Vreken P., Aviram M. Plasmalogen phospholipids are involved in HDL-mediated cholesterol efflux: insights from investigations with plasmalogen-deficient cells Biochemical and biophysical research communications 1998;250 (2):369-373 [PubMed]
• Tang N. L., Hui J., Law L. K., To K. F., Ruiter J. P., IJlst L., Wanders R. J., Ho C. S., Fok T. F., Yuen P. M., Hjelm N. M. Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation Journal of inherited metabolic disease 1998;21 (4):423-425 [PubMed]
• Verhoeven N. M., Schor D. S., Roe C. R., Wanders R. J., Jakobs C. Pristanic acid beta-oxidation in peroxisomal disorders: studies in cultured human fibroblasts BIOCHIMICA ET BIOPHYSICA ACTA-LIPIDS AND LIPID METABOLISM 1998;1391 (3):351-356 [PubMed]
• Vreken P., van Lint A. E., Bootsma A. H., Overmars H., Wanders R. J., van Gennip A. H. Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry Journal of chromatography. B, Biomedical sciences and applications 1998;713 (2):281-287 [PubMed]
• Vreken P., van Rooij A., Denis S., van Grunsven E. G., Cuebas D. A., Wanders R. J. Sensitive analysis of serum 3alpha, 7alpha, 12alpha,24-tetrahydroxy- 5beta-cholestan-26-oic acid diastereomers using gas chromatography-mass spectrometry and its application in peroxisomal D-bifunctional protein deficiency Journal of lipid research 1998;39 (12):2452-2458 [PubMed]
• Waterham H. R., Wijburg F. A., Hennekam R. C., Vreken P., Poll-The B. T., Dorland L., Duran M., Jira P. E., Smeitink J. A., Wevers R. A., Wanders R. J. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene American journal of human genetics 1998;63 (2):329-338 [PubMed]
• Huemer M., Muehl A., Wandl-Vergesslich K., Strobl W., Wanders R. J., Stoeckler-Ipsiroglu S. Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency European journal of pediatrics 1998;157 (9):743-746 [PubMed]
• Verhoeven N. M., Jakobs C., ten Brink H. J., Wanders R. J., Roe C. R. Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis Journal of inherited metabolic disease 1998;21 (7):753-760 [PubMed]
• van Kuilenburg A. B., van Lenthe H., Wanders R. J., van Gennip A. H. Subcellular localization of dihydropyrimidine dehydrogenase Advances in experimental medicine and biology 1998;431:817-821 [PubMed]
• Verhoeven N. M., Wanders R. J., Poll-The B. T., Saudubray J. M., Jakobs C. The metabolism of phytanic acid and pristanic acid in man: a review Journal of inherited metabolic disease 1998;21 (7):697-728 [PubMed]
• Wirtz K. W., Wouters F. S., Bastiaens P. H., Wanders R. J., Seedorf U., Jovin T. M. The non-specific lipid transfer protein (sterol carrier protein 2) acts as a peroxisomal fatty acyl-CoA binding protein Biochemical Society transactions 1998;26 (3):374-378 [PubMed]
• Iacobazzi V., Naglieri M. A., Stanley C. A., Wanders R. J., Palmieri F. The structure and organization of the human carnitine/acylcarnitine translocase (CACT1) gene2 Biochemical and biophysical research communications 1998;252 (3):770-774 [PubMed]
• van Wagensveld B. A., Reinders M. E., van Gulik T. M., Gelderblom H. C., Frederiks W. M., Wanders R. J., Obertop H. Warm flush at 37 degrees C following cold storage attenuates reperfusion injury in preserved rat livers Transplant international 1998;11 (1):38-45 [PubMed]
• Wanders R. J., Mooyer P. W., Dekker C., Vreken P. X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods Journal of inherited metabolic disease 1998;21 (3):285-287 [PubMed]

1997

• Christensen E., Pedersen S. A., Leth H., Jakobs C., Schutgens R. B., Wanders R. J. A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids Journal of inherited metabolic disease 1997;20 (5):658-664 [PubMed]
• Casals N., Pié J., Casale C. H., Zapater N., Ribes A., Castro-Gago M., Rodriguez-Segade S., Wanders R. J., Hegardt F. G. A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria Journal of lipid research 1997;38 (11):2303-2313 [PubMed]
• Ventura F. V., Costa C. G., IJlst L., Dorland L., Duran M., Jakobs C., de Almeida I. T., Wanders R. J. Broad specificity of carnitine palmitoyltransferase II towards long-chain acyl-CoA beta-oxidation intermediates and its practical approach to the synthesis of various long-chain acylcarnitines Journal of inherited metabolic disease 1997;20 (3):423-426 [PubMed]
• Huizing M., Iacobazzi V., IJlst L., Savelkoul P., Ruitenbeek W., van den Heuvel L., Indiveri C., Smeitink J., Trijbels F., Wanders R., Palmieri F. Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient American journal of human genetics 1997;61 (6):1239-1245 [PubMed]
• van Grunsven E. G., van Roermund C. W., Denis S., Wanders R. J. Complementation analysis of fibroblasts from peroxisomal fatty acid oxidation deficient patients shows high frequency of bifunctional enzyme deficiency plus intragenic complementation: unequivocal evidence for differential defects in the same enzyme protein Biochemical and biophysical research communications 1997;235 (1):176-179 [PubMed]
• Verleur N., Elgersma Y., van Roermund C. W., Tabak H. F., Wanders R. J. Cytosolic aspartate aminotransferase encoded by the AAT2 gene is targeted to the peroxisomes in oleate-grown Saccharomyces cerevisiae European Journal of Biochemistry / FEBS 1997;247 (3):972-980 [PubMed]
• Verhoeven N. M., Schor D. S., Jansen G. A., Kok R. M., ten Brink H. J., Wanders R. J., Jakobs C. Formation of 2,3-pristenic acid and 3-hydroxypristanic acid from pristanic acid in human liver Journal of inherited metabolic disease 1997;20 (3):441-443 [PubMed]
• van Grunsven E. G., Wanders R. J. Genetic heterogeneity in patients with a disorder of peroxisomal beta-oxidation: a complementation study based on pristanic acid beta-oxidation suggesting different enzyme defects Journal of inherited metabolic disease 1997;20 (3):437-440 [PubMed]
• Ramaekers V. T., Bosman B., Jansen G. A., Wanders R. J. Increased plasma malondialdehyde associated with cerebellar structural defects Archives of disease in childhood 1997;77 (3):231-234 [PubMed]
• Wanders R. J., Vilarinho L., Hartung H. P., Hoffmann G. F., Mooijer P. A., Jansen G. A., Huijmans J. G., de Klerk J. B., ten Brink H. J., Jakobs C., Duran M. L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients Journal of inherited metabolic disease 1997;20 (5):725-726 [PubMed]
• van der Hoek Y. Y., Wanders R. J., van den Ende A. E., Kraft H. G., Gabel B. R., Kastelein J. J., Koschinsky M. L. Lipoprotein[a] is not present in the plasma of patients with some peroxisomal disorders Journal of lipid research 1997;38 (8):1612-1619 [PubMed]
• Tyni T., Palotie A., Viinikka L., Valanne L., Salo M. K., von Döbeln U., Jackson S., Wanders R., Venizelos N., Pihko H. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients Journal of pediatrics 1997;130 (1):67-76 [PubMed]
• IJlst L., Oostheim W., Ruiter J. P., Wanders R. J. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations Journal of inherited metabolic disease 1997;20 (3):420-422 [PubMed]
• Grünewald S., Bakkeren J., Wanders R. A., Wendel U. Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect Journal of inherited metabolic disease 1997;20 (6):835-836 [PubMed]
• Dionisi-Vici C., Ruitenbeek W., Fariello G., Bentlage H., Wanders R. J., Schägger H., Bosman C., Piantadosi C., Sabetta G., Bertini E. New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency Annals of neurology 1997;42 (4):661-665 [PubMed]
• Verhoeven N. M., Wanders R. J., Schor D. S., Jansen G. A., Jakobs C. Phytanic acid alpha-oxidation: decarboxylation of 2-hydroxyphytanoyl-CoA to pristanic acid in human liver Journal of lipid research 1997;38 (10):2062-2070 [PubMed]
• Verhoeven N. M., Schor D. S., Roe C. R., Wanders R. J., Jakobs C. Phytanic acid alpha-oxidation in peroxisomal disorders: studies in cultured human fibroblasts BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1997;1361 (3):281-286 [PubMed]
• Jansen G. A., Mihalik S. J., Watkins P. A., Moser H. W., Jakobs C., Heijmans H. S., Wanders R. J. Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata Journal of inherited metabolic disease 1997;20 (3):444-446 [PubMed]
• Jansen G. A., Wanders R. J., Watkins P. A., Mihalik S. J. Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease New England journal of medicine 1997;337 (2):133-134 [PubMed]
• Jansen G. A., Wanders R. J. Plasmalogens and oxidative stress: evidence against a major role of plasmalogens in protection against the superoxide anion radical Journal of inherited metabolic disease 1997;20 (1):85-94 [PubMed]
• Jansen G. A., Ofman R., Ferdinandusse S., IJlst L., Muijsers A. O., Skjeldal O. H., Stokke O., Jakobs C., Besley G. T., Wraith J. E., Wanders R. J. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene Nature genetics 1997;17 (2):190-193 [PubMed]
• Verhoeven N. M., Schor D. S., ten Brink H. J., Wanders R. J., Jakobs C. Resolution of the phytanic acid alpha-oxidation pathway: identification of pristanal as product of the decarboxylation of 2-hydroxyphytanoyl-CoA Biochemical and biophysical research communications 1997;237 (1):33-36 [PubMed]
• Motley A. M., Hettema E. H., Hogenhout E. M., Brites P., ten Asbroek A. L., Wijburg F. A., Baas F., Heijmans H. S., Tabak H. F., Wanders R. J., Distel B. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor Nature genetics 1997;15 (4):377-380 [PubMed]
• Wanders R. J., Romeijn G. J., Wijburg F., Hennekam R. C., de Jong J., Wevers R. A., Dacremont G. Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection Journal of inherited metabolic disease 1997;20 (3):432-436 [PubMed]
• Wanders R. J., Denis S., Wouters F., Wirtz K. W., Seedorf U. Sterol carrier protein X (SCPx) is a peroxisomal branched-chain beta-ketothiolase specifically reacting with 3-oxo-pristanoyl-CoA: a new, unique role for SCPx in branched-chain fatty acid metabolism in peroxisomes Biochemical and biophysical research communications 1997;236 (3):565-569 [PubMed]
• Geelen M. J., Bijleveld C., Velasco G., Wanders R. J., Guzmán M. Studies on the intracellular localization of acetyl-CoA carboxylase Biochemical and biophysical research communications 1997;233 (1):253-257 [PubMed]
• van Kuilenburg A. B., van Lenthe H., Wanders R. J., van Gennip A. H. Subcellular localization of dihydropyrimidine dehydrogenase Biological chemistry 1997;378 (9):1047-1053 [PubMed]
• Niezen-Koning K. E., Wanders R. J., Ruiter J. P., IJlst L., Visser G., Reitsma-Bierens W. C., Heymans H. S., Reijngoud D. J., Smit G. P. Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature European journal of pediatrics 1997;156 (11):870-873 [PubMed]
• Verleur N., Hettema E. H., van Roermund C. W., Tabak H. F., Wanders R. J. Transport of activated fatty acids by the peroxisomal ATP-binding-cassette transporter Pxa2 in a semi-intact yeast cell system European Journal of Biochemistry / FEBS 1997;249 (3):657-661 [PubMed]
• Silva M. F., Ruiter J. P., Illst L., Jakobs C., Duran M., de Almeida I. T., Wanders R. J. Valproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitro Journal of inherited metabolic disease 1997;20 (3):397-400 [PubMed]
• van Geel B. M., Assies J., Wanders R. J., Barth P. G. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy Journal of neurology, neurosurgery, and psychiatry 1997;63 (1):4-14 [PubMed]

1996

• Wang S. P., Robert M. F., Gibson K. M., Wanders R. J., Mitchell G. A. 3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients Genomics 1996;33 (1):99-104 [PubMed]
• Kemp S., Mooyer P. A., Bolhuis P. A., van Geel B. M., Mandel J. L., Barth P. G., Aubourg P., Wanders R. J. ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy Journal of inherited metabolic disease 1996;19 (5):667-674 [PubMed]
• Lincke C. R., van den Bogert C., Nijtmans L. G., Wanders R. J., Tamminga P., Barth P. G. Cerebellar hypoplasia in respiratory chain dysfunction Neuropediatrics 1996;27 (4):216-218 [PubMed]
• Wanders R. J., Romeijn G. J. Cholesterol biosynthesis in Zellweger syndrome: normal activity of mevalonate kinase, mevalonate-5'-pyrophosphate decarboxylase and IPP-isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver Journal of inherited metabolic disease 1996;19 (2):193-196 [PubMed]
• Topçu M., Erdem G., Saatçi I., Aktan G., Simşek A., Renda Y., Schutgens R. B., Wanders R. J., Jacobs C. Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease Journal of child neurology 1996;11 (5):373-377 [PubMed]
• IJlst L., Ruiter J. P., Hoovers J. M., Jakobs M. E., Wanders R. J. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene Journal of clinical investigation 1996;98 (4):1028-1033 [PubMed]
• Jansen G. A., Wanders R. J., Jöbsis G. J., Bolhuis P. A., de Jong J. M. Evidence against increased oxidative stress in fibroblasts from patients with non-superoxide-dismutase-1 mutant familial amyotrophic lateral sclerosis Journal of the neurological sciences 1996;139 (Suppl):91-94 [PubMed]
• Aalfs C. M., Hennekam R. C., Wanders R. J., Jira P. E., Pilon J. W., Wijburg F. A. Het Smith-Lemli-Opitz-syndroom; een bijzonder defect in het cholesterolmetabolisme Nederlands tijdschrift voor geneeskunde 1996;140 (28):1463-1466 [PubMed]
• van Acker K. J., Eyskens F. J., Espeel M. F., Wanders R. J., Dekker C., Kerckaert I. O., Roels F. Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: a novel type of primary hyperoxaluria Kidney international 1996;50 (5):1747-1752 [PubMed]
• Wiemer E. A., IJlst L., van Roy J., Wanders R. J., Opperdoes F. R. Identification of 2-enoyl coenzyme A hydratase and NADP(+)-dependent 3-hydroxyacyl-CoA dehydrogenase activity in glycosomes of procyclic Trypanosoma brucei Molecular and biochemical parasitology 1996;82 (1):107-111 [PubMed]
• Jakobs B. S., Wanders R. J. Impaired peroxisomal fatty acid oxidation in human skin fibroblasts with a mitochondrial acylcarnitine/carnitine translocase deficiency Journal of inherited metabolic disease 1996;19 (2):185-187 [PubMed]
• Ventura F. V., Ruiter J. P., IJlst L., de Almeida I. T., Wanders R. J. Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acid beta-oxidation intermediates on mitochondrial oxidative phosphorylation Journal of inherited metabolic disease 1996;19 (2):161-164 [PubMed]
• Hebestreit H., Wanders R. J., Schutgens R. B., Espeel M., Kerckaert I., Roels F., Schmausser B., Schrod L., Marx A. Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings European journal of pediatrics 1996;155 (12):1035-1039 [PubMed]
• IJlst L., Ruiter J. P., Vreijling J., Wanders R. J. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C) Journal of inherited metabolic disease 1996;19 (2):165-168 [PubMed]
• Girós M., Roels F., Prats J., Ruiz M., Ribes A., Espeel M., Wanders R. J., Schutgens R. B., Pámpols T. Long survival in a case of peroxisomal biogenesis disorder with peroxisome mosaicism in the liver Annals of the New York Academy of Sciences 1996;804:747-749 [PubMed]
• Vallat C., Denis S., Bellet H., Jakobs C., Wanders R. J., Mion H. Major hyperpipecolataemia in a normal adult Journal of inherited metabolic disease 1996;19 (5):624-626 [PubMed]
• Wanders R. J., Jansen G., van Roermund C. W., Denis S., Schutgens R. B., Jakobs B. S. Metabolic aspects of peroxisomal disorders Annals of the New York Academy of Sciences 1996;804:450-460 [PubMed]
• Ushikubo S., Aoyama T., Kamijo T., Wanders R. J., Rinaldo P., Vockley J., Hashimoto T. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits American journal of human genetics 1996;58 (5):979-988 [PubMed]
• Motley A. M., Tabak H. F., Smeitink J. A., Poll-The B. T., Barth P. G., Wanders R. J. Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1996;1315 (3):153-158 [PubMed]
• Costa C. G., Verhoeven N. M., Kneepkens C. M., Douwes A. C., Wanders R. J., de Almeida I. T., Duran M., Jakobs C. Organic acid profiles resembling a beta-oxidation defect in two patients with coeliac disease Journal of inherited metabolic disease 1996;19 (2):177-180 [PubMed]
• Jansen G. A., Mihalik S. J., Watkins P. A., Moser H. W., Jakobs C., Denis S., Wanders R. J. Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans Biochemical and biophysical research communications 1996;229 (1):205-210 [PubMed]
• Wanders R. J., Ruiter J. P., Wijburg F. A., Zeman J., Klement P., Houstek J. Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin-permeabilized cells Journal of inherited metabolic disease 1996;19 (2):133-136 [PubMed]
• Bakker H. D., van den Bogert C., Drewes J. G., Barth P. G., Scholte H. R., Wanders R. J., Ruitenbeek W. Progressive generalized brain atrophy and infantile spasms associated with cytochrome c oxidase deficiency Journal of inherited metabolic disease 1996;19 (2):153-156 [PubMed]
• Hettema E. H., van Roermund C. W., Distel B., van den Berg M., Vilela C., Rodrigues-Pousada C., Wanders R. J., Tabak H. F. The ABC transporter proteins Pat1 and Pat2 are required for import of long-chain fatty acids into peroxisomes of Saccharomyces cerevisiae EMBO journal 1996;15 (15):3813-3822 [PubMed]
• Pons R., Roig M., Riudor E., Ribes A., Briones P., Ortigosa L., Baldellou A., Gil-Gibernau J., Olesti M., Navarro C., Wanders R. J. The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Pediatric neurology 1996;14 (3):236-243 [PubMed]
• Barth P. G., Wanders R. J., Schutgens R. B., Staalman C. R. Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies American journal of medical genetics 1996;62 (2):164-168 [PubMed]

1995

• Nijtmans L. G., Barth P. G., Lincke C. R., van Galen M. J., Zwart R., Klement P., Bolhuis P. A., Ruitenbeek W., Wanders R. J., van den Bogert C. Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1995;1270 (2-3):193-201 [PubMed]
• Andy V., Horváth P., Wanders R. J. Aminooxy acetic acid: a selective inhibitor of alanine:glyoxylate aminotransferase and its use in the diagnosis of primary hyperoxaluria type I Clinica chimica acta; international journal of clinical chemistry 1995;243 (2):105-114 [PubMed]
• Gray R. G., Green A., Cole T., Davidson V., Giles M., Schutgens R. B., Wanders R. J. A misdiagnosis of X-linked adrenoleukodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids Prenatal diagnosis 1995;15 (5):486-490 [PubMed]
• Niezen-Koning K. E., van Spronsen F. J., IJlst L., Wanders R. J., Brivet M., Duran M., Reijngoud D. J., Heymans H. S., Smit G. P. A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency Journal of inherited metabolic disease 1995;18 (2):230-232 [PubMed]
• Wanders R. J., Mooyer P. D-2-hydroxyglutaric acidaemia: identification of a new enzyme, D-2-hydroxyglutarate dehydrogenase, localized in mitochondria Journal of inherited metabolic disease 1995;18 (2):194-196 [PubMed]
• Leroy J. G., Espeel M., Gadisseux J. F., Mandel H., Martinez M., Poll-The B. T., Wanders R. J., Roels F. Diagnostic work-up of a peroxisomal patient Journal of inherited metabolic disease 1995;18 (Suppl. 1):214-222 [PubMed]
• Jakobs B. S., Wanders R. J. Fatty acid beta-oxidation in peroxisomes and mitochondria: the first, unequivocal evidence for the involvement of carnitine in shuttling propionyl-CoA from peroxisomes to mitochondria Biochemical and biophysical research communications 1995;213 (3):1035-1041 [PubMed]
• Wanders R. J., Dekker C., Ofman R., Schutgens R. B., Mooijer P. Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients Journal of inherited metabolic disease 1995;18 (Suppl. 1):101-112 [PubMed]
• Goez H., Meiron D., Horowitz J., Schutgens R. H., Wanders R. J., Berant M., Mandel H. Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder Journal of pediatric gastroenterology and nutrition 1995;20 (1):98-101 [PubMed]
• Ventura F. V., Ruiter J. P., IJlst L., Almeida I. T., Wanders R. J. Inhibition of oxidative phosphorylation by palmitoyl-CoA in digitonin permeabilized fibroblasts: implications for long-chain fatty acid beta-oxidation disorders BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1995;1272 (1):14-20 [PubMed]
• van Roermund C. W., van den Berg M., Wanders R. J. Localization of peroxisomal 3-oxoacyl-CoA thiolase in particles of varied density in rat liver: implications for peroxisome biogenesis BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS 1995;1245 (3):348-358 [PubMed]
• IJlst L., Uskikubo S., Kamijo T., Hashimoto T., Ruiter J. P., de Klerk J. B., Wanders R. J. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype Journal of inherited metabolic disease 1995;18 (2):241-244 [PubMed]
• Motley A., Lumb M. J., Oatey P. B., Jennings P. R., de Zoysa P. A., Wanders R. J., Tabak H. F., Danpure C. J. Mammalian alanine/glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1 Journal of cell biology 1995;131 (1):95-109 [PubMed]
• Wanders R. J., Ofman R., Romeijn G. J., Schutgens R. B., Mooijer P. A., Dekker C., van den Bosch H. Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells Journal of inherited metabolic disease 1995;18 (Suppl. 1):90-100 [PubMed]
• Wanders R. J., Denis S., Ruiter J. P., Schutgens R. B., van Roermund C. W., Jacobs B. S. Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts Journal of inherited metabolic disease 1995;18 (Suppl. 1):113-124 [PubMed]
• Cornelissen J., Wanders R. J., van Gennip A. H., van den Bogert C., Voûte P. A., van Kuilenburg A. B. Meta-iodobenzylguanidine inhibits complex I and III of the respiratory chain in the human cell line Molt-4 Biochemical pharmacology 1995;49 (4):471-477 [PubMed]
• Cornelissen J., Wanders R. J., van den Bogert C., van Kuilenburg A. B., Elzinga L., Voûte P. A., van Gennip A. H. Meta-iodobenzylguanidine (MIBG) inhibits malate and succinate driven mitochondrial ATP synthesis in the human neuroblastoma cell line SK-N-BE(2c) European journal of cancer (Oxford, England 1995;31A (4):582-586 [PubMed]
• Fukao T., Song X. Q., Yamaguchi S., Orii T., Wanders R. J., Poll-The B. T., Hashimoto T. Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency Human mutation 1995;5 (1):94-96 [PubMed]
• Mayatepek E., Wanders R. J., Becker M., Bremer H. J., Hoffmann G. F. Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria Journal of inherited metabolic disease 1995;18 (2):249-252 [PubMed]
• Elgersma Y., van Roermund C. W., Wanders R. J., Tabak H. F. Peroxisomal and mitochondrial carnitine acetyltransferases of Saccharomyces cerevisiae are encoded by a single gene EMBO journal 1995;14 (14):3472-3479 [PubMed]
• Wanders R. J., Schutgens R. B., Barth P. G. Peroxisomal disorders: a review Journal of neuropathology and experimental neurology 1995;54 (5):726-739 [PubMed]
• Espeel M., Mandel H., Poggi F., Smeitink J. A., Wanders R. J., Kerckaert I., Schutgens R. B., Saudubray J. M., Poll-The B. T., Roels F. Peroxisome mosaicism in the livers of peroxisomal deficiency patients Hepatology (Baltimore, Md.) 1995;22 (2):497-504 [PubMed]
• Wanders R. J., van Roermund C. W., Schor D. S., ten Brink H. J., Jakobs C. Phytanic acid oxidation in man: identification of a new enzyme catalysing the formation of 2-ketophytanic acid from 2-hydroxyphytanic acid and its deficiency in the Zellweger syndrome Journal of inherited metabolic disease 1995;18 (2):201-203 [PubMed]
• van Roermund C. W., Elgersma Y., Singh N., Wanders R. J., Tabak H. F. The membrane of peroxisomes in Saccharomyces cerevisiae is impermeable to NAD(H) and acetyl-CoA under in vivo conditions EMBO journal 1995;14 (14):3480-3486 [PubMed]

1994

• Wanders R. J., van Roermund C. W., Schor D. S., ten Brink H. J., Jakobs C. 2-Hydroxyphytanic acid oxidase activity in rat and human liver and its deficiency in the Zellweger syndrome BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1994;1227 (3):177-182 [PubMed]
• Vanhole C., de Zegher F., Casaer P., Devlieger H., Wanders R. J., Vanhove G., Jaeken J. A new peroxisomal disorder with fetal and neonatal adrenal insufficiency Archives of disease in childhood. Fetal and neonatal edition 1994;71 (1):F55-F56 [PubMed]
• Mandel H., Espeel M., Roels F., Sofer N., Luder A., Iancu T. C., Aizin A., Berant M., Wanders R. J., Schutgens R. B. A new type of peroxisomal disorder with variable expression in liver and fibroblasts Journal of pediatrics 1994;125 (4):549-555 [PubMed]
• Schutgens R. B., Wanders R. J., Jakobs C., Arslan-Kirchner M., Miller K., Wieacker P., Hunnemann D., Hurter P., von Schutz M. A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts Journal of inherited metabolic disease 1994;17 (3):319-322 [PubMed]
• Venizelos N., IJlst L., Wanders R. J., Hagenfeldt L. beta-Oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduria Pediatric research 1994;36 (1 Part 1):111-114 [PubMed]
• Nuoffer J. M., Pfammatter J. P., Spahr A., Toplak H., Wanders R. J., Schutgens R. B., Wiesmann U. N. Chondrodysplasia punctata with a mild clinical course Journal of inherited metabolic disease 1994;17 (1):60-66 [PubMed]
• Wanders R. J., Barth P. G., Schutgens R. B., Tager J. M. Clinical and biochemical characteristics of peroxisomal disorders: an update European journal of pediatrics 1994;153 (7 Suppl 1):S44-S48 [PubMed]
• Gibson K. M., Cassidy S. B., Seaver L. H., Wanders R. J., Kennaway N. G., Mitchell G. A., Spark R. P. Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Journal of inherited metabolic disease 1994;17 (3):291-294 [PubMed]
• ten Brink H. J., Wanders R. J., Christensen E., Brandt N. J., Jakobs C. Heterogeneity in di/trihydroxycholestanoic acidaemia Annals of clinical biochemistry 1994;31 ( Pt 2):195-197 [PubMed]
• Wanders R. J., Dekker C., Hovarth V. A., Schutgens R. B., Tager J. M., van Laer P., Lecoutere D. Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder Journal of inherited metabolic disease 1994;17 (3):315-318 [PubMed]
• Clayton P. T., Eckhardt S., Wilson J., Hall C. M., Yousuf Y., Wanders R. J., Schutgens R. B. Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay Journal of inherited metabolic disease 1994;17 (5):533-540 [PubMed]
• Sewell A. C., Bender S. W., Wirth S., Münterfering H., Ijlist L., Wanders R. J. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder European journal of pediatrics 1994;153 (10):745-750 [PubMed]
• Niezen-Koning K. E., Wanders R. J., Nagel G. T., Sewell A. C., Heymans H. S. Measurement of short-chain acyl-CoA dehydrogenase (SCAD) in cultured skin fibroblasts with hexanoyl-CoA as a competitive inhibitor to eliminate the contribution of medium-chain acyl-CoA dehydrogenase Clinica chimica acta; international journal of clinical chemistry 1994;229 (1-2):99-106 [PubMed]
• Wanders R. J., Ruiter J. P., Wijburg F. A. Mitochondrial oxidative phosphorylation in digitonin-permeabilized chorionic villus fibroblasts: a new method with potential for prenatal diagnosis Journal of inherited metabolic disease 1994;17 (3):304-306 [PubMed]
• Kamijo T., Wanders R. J., Saudubray J. M., Aoyama T., Komiyama A., Hashimoto T. Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients Journal of clinical investigation 1994;93 (4):1740-1747 [PubMed]
• Bakker H. D., Westra M., Overweg-Plandsoen W. C., van Waveren G., Sillevis Smitt J. H., Abeling N. G., Wanders R. J., Schutgens R. B., van Gennip A. H. Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency European journal of pediatrics 1994;153 (11):861-862 [PubMed]
• Schutgens R. B., Ryynänen M., Wanders R. J. Peroxisomal functions in mulibrey nanism Journal of inherited metabolic disease 1994;17 (5):626 [PubMed]
• Ofman R., Wanders R. J. Purification of peroxisomal acyl-CoA: dihydroxyacetonephosphate acyltransferase from human placenta BIOCHIMICA ET BIOPHYSICA ACTA-PROTEIN STRUCTURE AND MOLECULAR ENZYMOLOGY 1994;1206 (1):27-34 [PubMed]
• Horváth V. A., Wanders R. J. Rapid identification of primary hyperoxaluria type I patients using a novel, fully automated method for measurement of hepatic alanine: glyoxylate aminotransferase Journal of inherited metabolic disease 1994;17 (3):336-338 [PubMed]
• Horváth V. A., Wanders R. J. Re-evaluation of conditions required for measurement of true alanine:glyoxylate aminotransferase activity in human liver: implications for the diagnosis of hyperoxaluria type I Annals of clinical biochemistry 1994;31 (4):361-366 [PubMed]
• Tager J. M., Aerts J. M., van den Bogert C., Wanders R. J. Signals on proteins, intracellular targeting and inborn errors of organellar metabolism Journal of inherited metabolic disease 1994;17 (4):459-469 [PubMed]
• de Waart D. R., Koomen G. C., Wanders R. J. Studies on the urinary excretion of thromboxane B2 in Zellweger patients and control subjects: evidence for a major role for peroxisomes in the beta-oxidative chain-shortening of thromboxane B2 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1994;1226 (1):44-48 [PubMed]

1993

• Bakker H. D., Wanders R. J., Schutgens R. B., Abeling N. G., van Gennip A. H. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction Journal of inherited metabolic disease 1993;16 (6):1061-1062 [PubMed]
• Bakker H. D., Scholte H. R., van den Bogert C., Jeneson J. A., Ruitenbeek W., Wanders R. J., Abeling N. G., van Gennip A. H. Adenine nucleotide translocator deficiency in muscle: potential therapeutic value of vitamin E Journal of inherited metabolic disease 1993;16 (3):548-552 [PubMed]
• IJlst L., Wanders R. J. A simple spectrophotometric assay for long-chain acyl-CoA dehydrogenase activity measurements in human skin fibroblasts Annals of clinical biochemistry 1993;30 (3):293-297 [PubMed]
• IJlst L., Wanders R. J. A simple, straightforward assay for long-chain 3-hydroxyacyl-CoA dehydrogenase based on the use of N-ethylmaleimide: potential for pre- and postnatal diagnosis Journal of inherited metabolic disease 1993;16 (3):568-570 [PubMed]
• Espeel M., Heikoop J. C., Smeitink J. A., Beemer F. A., de Craemer D., van den Berg M., Hashimoto T., Wanders R. J., Schutgens R. B., Poll-The B. T. Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata Ultrastructural pathology 1993;17 (6):623-636 [PubMed]
• Bakker H. D., Scholte H. R., van den Bogert C., Ruitenbeek W., Jeneson J. A., Wanders R. J., Abeling N. G., Dorland B., Sengers R. C., van Gennip A. H. Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect Pediatric research 1993;33 (4 Part 1):412-417 [PubMed]
• van Geel B. M., Assies J., Haverkort E. B., Barth P. G., Wanders R. J., Schutgens R. B., Keyser A., Zwetsloot C. P. Delay in diagnosis of X-linked adrenoleukodystrophy Clinical neurology and neurosurgery 1993;95 (2):115-120 [PubMed]
• Herzberg N. H., Zwart R., Wolterman R. A., Ruiter J. P., Wanders R. J., Bolhuis P. A., van den Bogert C. Differentiation and proliferation of respiration-deficient human myoblasts BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1993;1181 (1):63-67 [PubMed]
• van den Bosch H., Schrakamp G., Hardeman D., Zomer A. W., Wanders R. J., Schutgens R. B. Ether lipid synthesis and its deficiency in peroxisomal disorders Biochimie 1993;75 (3-4):183-189 [PubMed]
• Pérez-Cerdá C., Merinero B., Jiménez A., García M. J., Sanz P., IJlst L., Wanders R. J., Ugarte M. First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk Prenatal diagnosis 1993;13 (6):529-533 [PubMed]
• Frederiks W. M., Bosch K. S., Ankum M., Wanders R. J. Histochemistry of peroxisomal enzyme activities: a tool in the diagnosis of Zellweger syndrome Journal of inherited metabolic disease 1993;16 (6):921-928 [PubMed]
• Mayatepek E., Lehmann W. D., Fauler J., Tsikas D., Frölich J. C., Schutgens R. B., Wanders R. J., Keppler D. Impaired degradation of leukotrienes in patients with peroxisome deficiency disorders Journal of clinical investigation 1993;91 (3):881-888 [PubMed]
• Santer R., Claviez A., Oldigs H. D., Schaub J., Schutgens R. B., Wanders R. J. Isolated defect of peroxisomal beta-oxidation in a 16-year-old patient European journal of pediatrics 1993;152 (4):339-342 [PubMed]
• Jansen G. A., Wanders R. J. L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1993;1225 (1):53-56 [PubMed]
• Barth P. G., Hoffmann G. F., Jaeken J., Wanders R. J., Duran M., Jansen G. A., Jakobs C., Lehnert W., Hanefeld F., Valk J. L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase Journal of inherited metabolic disease 1993;16 (4):753-761 [PubMed]
• Bakker H. D., Abeling N. G., ten Houten R., van den Blij J. F., Overweg-Plandsoen W. C., Wanders R. J., van Gennip A. H. Molybdenum cofactor deficiency can mimic postanoxic encephalopathy Journal of inherited metabolic disease 1993;16 (5):900-901 [PubMed]
• Verleur N., Wanders R. J. Permeability properties of peroxisomes in digitonin-permeabilized rat hepatocytes. Evidence for free permeability towards a variety of substrates European Journal of Biochemistry / FEBS 1993;218 (1):75-82 [PubMed]
• Christensen E., Woldseth B., Hagve T. A., Poll-The B. T., Wanders R. J., Sprecher H., Stokke O., Christophersen B. O. Peroxisomal beta-oxidation of polyunsaturated long chain fatty acids in human fibroblasts. The polyunsaturated and the saturated long chain fatty acids are retroconverted by the same acyl-CoA oxidase Scandinavian journal of clinical and laboratory investigation 1993;53 (Suppl. 215):61-74 [PubMed]
• ten Brink H. J., van den Heuvel C. M., Poll-The B. T., Wanders R. J., Jakobs C. Peroxisomal disorders: concentrations of metabolites in cerebrospinal fluid compared with plasma Journal of inherited metabolic disease 1993;16 (3):587-590 [PubMed]
• Wanders R. J., Schutgens R. B., Barth P. G., Tager J. M., van den Bosch H. Postnatal diagnosis of peroxisomal disorders: a biochemical approach Biochimie 1993;75 (3-4):269-279 [PubMed]
• Schutgens R. B., Bouman I. W., Nijenhuis A. A., Wanders R. J., Frumau M. E. Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata Clinical chemistry 1993;39 (8):1632-1637 [PubMed]
• Cornelissen J. C., Wanders R. J., Bolhuis P. A., Bleeker-Wagemakers E., Oostra R. J., Wijburg F. A. Respiratory chain function in Leber's hereditary optic neuropathy: lack of correlation with clinical disease Journal of inherited metabolic disease 1993;16 (3):531-533 [PubMed]
• Barr D. G., Kirk J. M., al Howasi M., Wanders R. J., Schutgens R. B. Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency Archives of disease in childhood 1993;68 (3):415-417 [PubMed]
• Shimozawa N., Suzuki Y., Orii T., Moser A., Moser H. W., Wanders R. J. Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect American journal of human genetics 1993;52 (4):843-844 [PubMed]
• Wanders R. J., Ruiter J. P., Wijburg F. A. Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1993;1181 (3):219-222 [PubMed]
• Lageweg W., Wanders R. J. Studies on the effect of fenoprofen on the activation and oxidation of long chain and very long chain fatty acids in hepatocytes and subcellular fractions from rat liver Biochemical pharmacology 1993;46 (1):79-85 [PubMed]
• Smit N. P., van Roermund C. W., Aerts H. M., Heikoop J. C., van den Berg M., Pavel S., Wanders R. J. Subcellular fractionation of cultured normal human melanocytes: new insights into the relationship of melanosomes with lysosomes and peroxisomes BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1993;1181 (1):1-6 [PubMed]
• Vanhove G. F., van Veldhoven P. P., Fransen M., Denis S., Eyssen H. J., Wanders R. J., Mannaerts G. P. The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney Journal of biological chemistry 1993;268 (14):10335-10344 [PubMed]

1992

• Wanders R. J., Denis S., Jakobs C., ten Brink H. J. Activation and oxidation of pristanic acid in rat liver: identification of a distinct, clofibrate non-inducible pristanoyl-CoA oxidase Progress in clinical and biological research 1992;375:245-252 [PubMed]
• Niezen-Koning K. E., Wanders R. J., Nagel G. T., IJlst L., Heymans H. S. A new, simple assay for long-chain acyl-CoA dehydrogenase in cultured skin fibroblasts using stable isotopes and GC-MS BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1992;1180 (1):28-32 [PubMed]
• Wanders R. J., van Roermund C. W., Brul S., Schutgens R. B., Tager J. M. Bifunctional enzyme deficiency: identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal beta-oxidation of unknown aetiology by means of complementation analysis Journal of inherited metabolic disease 1992;15 (3):385-388 [PubMed]
• van den Bosch H., Schutgens R. B., Wanders R. J., Tager J. M. Biochemistry of peroxisomes Annual review of biochemistry 1992;61:157-197 [PubMed]
• Wanders R. J. Celbiologie in medisch perspectief. XI. Het peroxisoom: ontmaskering van een verborgen organel door onderzoekingen van het syndroom van Zellweger Nederlands tijdschrift voor geneeskunde 1992;136 (4):164-168 [PubMed]
• Wanders R. J., Denis S., van Roermund C. W., Jakobs C., ten Brink H. J. Characteristics and subcellular localization of pristanoyl-CoA synthetase in rat liver BIOCHIMICA ET BIOPHYSICA ACTA-LIPIDS AND LIPID METABOLISM 1992;1125 (3):274-279 [PubMed]
• Theil A. C., Schutgens R. B., Wanders R. J., Heymans H. S. Clinical recognition of patients affected by a peroxisomal disorder: a retrospective study in 40 patients European journal of pediatrics 1992;151 (2):117-120 [PubMed]
• Wanders R. J., IJlst L. Fatty acid beta-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1992;1138 (1):80-84 [PubMed]
• Heikoop J. C., Wanders R. J., Strijland A., Purvis R., Schutgens R. B., Tager J. M. Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study Human genetics 1992;89 (4):439-444 [PubMed]
• Wanders R. J., Schumacher H., Heikoop J., Schutgens R. B., Tager J. M. Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder Journal of inherited metabolic disease 1992;15 (3):389-391 [PubMed]
• Wanders R. J., IJlst L., Poggi F., Bonnefont J. P., Munnich A., Brivet M., Rabier D., Saudubray J. M. Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation Biochemical and biophysical research communications 1992;188 (3):1139-1145 [PubMed]
• Mandel H., Meiron D., Schutgens R. B., Wanders R. J., Berant M. Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder Journal of pediatric gastroenterology and nutrition 1992;14 (1):83-85 [PubMed]
• Wolvetang E. J., Tager J. M., Wanders R. J. Latency of peroxisomal palmitoyl-CoA beta-oxidation in digitonin permeabilized fibroblasts: the effect of ATP on peroxisomal permeability Progress in clinical and biological research 1992;375:223-229 [PubMed]
• Wanders R. J., IJlst L. Long-chain 3-hydroxyacyl-CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: potential for pre- and postnatal diagnosis Journal of inherited metabolic disease 1992;15 (3):356-358 [PubMed]
• Wanders R. J., van Roermund C. W., Denis S., Schutgens R. B., IJlst L., Tager J. M. Molecular analysis of disorders of peroxisomal beta-oxidation Progress in clinical and biological research 1992;375:507-519 [PubMed]
• van Maldergem L., Espeel M., Wanders R. J., Roels F., Gerard P., Scalais E., Mannaerts G. P., Casteels M., Gillerot Y. Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation Neuromuscular disorders 1992;2 (3):217-224 [PubMed]
• ten Brink H. J., Schor D. S., Kok R. M., Poll-The B. T., Wanders R. J., Jakobs C. Phytanic acid alpha-oxidation: accumulation of 2-hydroxyphytanic acid and absence of 2-oxophytanic acid in plasma from patients with peroxisomal disorders Journal of lipid research 1992;33 (10):1449-1457 [PubMed]
• Wanders R. J., Wijburg F. A., Ruiter J., Trijbels J. M., Ruitenbeek W., Sengers R. C., Bakkeren J. A., Feller N. Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose Journal of inherited metabolic disease 1992;15 (1):84-91 [PubMed]
• ten Brink H. J., Stellaard F., van den Heuvel C. M., Kok R. M., Schor D. S., Wanders R. J., Jakobs C. Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography Journal of lipid research 1992;33 (1):41-47 [PubMed]
• Wiemer E. A., Ofman R., Middelkoop E., de Boer M., Wanders R. J., Tager J. M. Production and characterisation of monoclonal antibodies against native and disassembled human catalase Journal of immunological methods 1992;151 (1-2):165-175 [PubMed]
• Jakobs B. S., Wanders R. J. Resolution of the subcellular site of very long-chain fatty acid beta-oxidation in human skin fibroblasts using a novel approach Progress in clinical and biological research 1992;375:231-238 [PubMed]
• Gray R. G., Green A., Chapman S., McKeown C., Schutgens R. B., Wanders R. J. Rhizomelic chondrodysplasia punctata--a new clinical variant Journal of inherited metabolic disease 1992;15 (6):931-932 [PubMed]
• Heikoop J. C., Ossendorp B. C., Wanders R. J., Wirtz K. W., Tager J. M. Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts FEBS letters 1992;299 (2):201-204 [PubMed]
• Hrebícek M., Zeman J., Petrák B., Kozich V., Hyánek J., Ruiter J. P., Wanders R. J., Wijburg F. A. Unusual clinical presentation in two boys with cytochrome c oxidase deficiency Journal of inherited metabolic disease 1992;15 (3):320-322 [PubMed]
• Wanders R. J., van Roermund C. W., Lageweg W., Jakobs B. S., Schutgens R. B., Nijenhuis A. A., Tager J. M. X-linked adrenoleukodystrophy: biochemical diagnosis and enzyme defect Journal of inherited metabolic disease 1992;15 (4):634-644 [PubMed]
• Mandel H., Berant M., Aizin A., Gershony R., Hemmli S., Schutgens R. B., Wanders R. J. Zellweger-like phenotype in two siblings: a defect in peroxisomal beta-oxidation with elevated very long-chain fatty acids but normal bile acids Journal of inherited metabolic disease 1992;15 (3):381-384 [PubMed]
• Samsom J. F., Jakobs C., van de Klei-van Moorsel J., Smit L. M., Schutgens R. B., Wanders R. J. Zellweger syndrome in a preterm, small for gestational age infant Journal of inherited metabolic disease 1992;15 (1):75-83 [PubMed]

1991

• Duran M., Wanders R. J., de Jager J. P., Dorland L., Bruinvis L., Ketting D., IJlst L., van Sprang F. J. 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment European journal of pediatrics 1991;150 (3):190-195 [PubMed]
• Wanders R. J., Casteels M., Mannaerts G. P., van Roermund C. W., Schutgens R. B., Kozich V., Zeman J., Hyanek J. Accumulation and impaired in vivo metabolism of di- and trihydroxycholestanoic acid in two patients Clinica chimica acta; international journal of clinical chemistry 1991;202 (3):123-132 [PubMed]
• van Roermund C. W., Brul S., Tager J. M., Schutgens R. B., Wanders R. J. Acyl-CoA oxidase, peroxisomal thiolase and dihydroxyacetone phosphate acyltransferase: aberrant subcellular localization in Zellweger syndrome Journal of inherited metabolic disease 1991;14 (2):152-164 [PubMed]
• Bakker H. D., Abeling N. G., van Schooneveld M. J., Wanders R. J., van Gennip A. H. A far advanced case of gyrate atrophy in a 12-year-old girl Journal of inherited metabolic disease 1991;14 (3):379-381 [PubMed]
• Lageweg W., Steen I., Tager J. M., Wanders R. J. A fluorimetric assay for acyl-CoA synthetase activities Analytical biochemistry 1991;197 (2):384-388 [PubMed]
• Poll-The B. T., Maroteaux P., Narcy C., Quetin P., Guesnu M., Wanders R. J., Schutgens R. B., Saudubray J. M. A new type of chondrodysplasia punctata associated with peroxisomal dysfunction Journal of inherited metabolic disease 1991;14 (3):361-363 [PubMed]
• Stellaard F., Kleijer W. J., Wanders R. J., Schutgens R. B., Jakobs C. Bile acids in amniotic fluid: promising metabolites for the prenatal diagnosis of peroxisomal disorders Journal of inherited metabolic disease 1991;14 (3):353-356 [PubMed]
• Jakobs B. S., Wanders R. J. Conclusive evidence that very-long-chain fatty acids are oxidized exclusively in peroxisomes in human skin fibroblasts Biochemical and biophysical research communications 1991;178 (3):842-847 [PubMed]
• Wanders R. J., van Roermund C. W., Schelen A., Schutgens R. B., Zeman J., Kozich V., Hyanek J., Casteels M., Mannaerts G. P. Di- and trihydroxycholestanaemia in twin sisters Journal of inherited metabolic disease 1991;14 (3):357-360 [PubMed]
• Wolvetang E. J., Tager J. M., Wanders R. J. Factors influencing the latency of the peroxisomal enzyme dihydroxyacetone-phosphate acyltransferase (DHAP-AT) in permeabilized human skin fibroblasts BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH 1991;1095 (2):122-126 [PubMed]
• Wanders R. J., van Roermund C. W., Jakobs C., ten Brink H. J. Identification of pristanoyl-CoA oxidase and phytanic acid decarboxylation in peroxisomes and mitochondria from human liver: implications for Zellweger syndrome Journal of inherited metabolic disease 1991;14 (3):349-352 [PubMed]
• van der Klei-van Moorsel J. M., Brockstedt M., Samsom J. F., Jakobs C., Wanders R. J. Leukocytes as a diagnostic tool for classical galactosaemia Journal of inherited metabolic disease 1991;14 (3):382-384 [PubMed]
• Przyrembel H., Jakobs C., IJlst L., de Klerk J. B., Wanders R. J. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Journal of inherited metabolic disease 1991;14 (5):674-680 [PubMed]
• Wanders R. J., IJlst L., Duran M., Jakobs C., de Klerk J. B., Przyrembel H., Rocchiccioli F., Aubourg P. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients Journal of inherited metabolic disease 1991;14 (3):325-328 [PubMed]
• Lageweg W., Wanders R. J., Tager J. M. Long-chain-acyl-CoA synthetase and very-long-chain-acyl-CoA synthetase activities in peroxisomes and microsomes from rat liver. An enzymological study European Journal of Biochemistry / FEBS 1991;196 (2):519-523 [PubMed]
• Wijburg F. A., Wanders R. J., van Lie Peters E. M., Vos G. D., Loggers H. G., Bolhuis P. A., Herzberg N. H., Ruitenbeek W., van Wilsem A., ten Houten R. NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain Journal of inherited metabolic disease 1991;14 (3):297-300 [PubMed]
• Wanders R. J., IJlst L., van Elk E., de Klerk J. B., Przyrembel H. Octanoate and palmitate beta-oxidation in human leukocytes: implications for the rapid diagnosis of fatty acid beta-oxidation disorders Journal of inherited metabolic disease 1991;14 (3):317-320 [PubMed]
• Lageweg W., Sykes J. E., Lopes-Cardozo M., Wanders R. J. Oxidation of very-long-chain fatty acids in rat brain: cerotic acid is beta-oxidized exclusively in rat brain peroxisomes BIOCHIMICA ET BIOPHYSICA ACTA-LIPIDS AND LIPID METABOLISM 1991;1085 (3):381-384 [PubMed]
• Wanders R. J., van Roermund C. W., Griffioen M., Cohen L. Peroxisomal enzyme activities in the human hepatoblastoma cell line HepG2 as compared to human liver BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS 1991;1115 (1):54-59 [PubMed]
• Wanders R. J., Tager J. M. Peroxisomal fatty acid beta-oxidation in relation to adrenoleukodystrophy Developmental neuroscience 1991;13 (4-5):262-266 [PubMed]
• Espeel M., Roels F., van Maldergem L., de Craemer D., Dacremont G., Wanders R. J., Hashimoto T. Peroxisomal localization of the immunoreactive beta-oxidation enzymes in a neonate with a beta-oxidation defect. Pathological observations in liver, adrenal cortex and kidney Virchows Archiv. A, Pathological anatomy and histopathology 1991;419 (4):301-308 [PubMed]
• Heikoop J. C., van den Berg M., Strijland A., Weijers P. J., Schutgens R. B., Just W. W., Wanders R. J., Tager J. M. Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1991;1097 (1):62-70 [PubMed]
• Wiemer E. A., Out M., Schelen A., Wanders R. J., Schutgens R. B., van den Bosch H., Tager J. M. Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1991;1097 (3):232-237 [PubMed]
• Wanders R. J., Schutgens R. B., van den Bosch H., Tager J. M., Kleijer W. J. Prenatal diagnosis of inborn errors in peroxisomal beta-oxidation Prenatal diagnosis 1991;11 (4):253-261 [PubMed]
• ten Brink H. J., Wanders R. J., Stellaard F., Schutgens R. B., Jakobs C. Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiency Journal of inherited metabolic disease 1991;14 (3):345-348 [PubMed]
• ten Brink H. J., Poll-The B. T., Saudubray J. M., Wanders R. J., Jakobs C. Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase Journal of inherited metabolic disease 1991;14 (5):681-684 [PubMed]
• Wijburg F. A., de Groot C. J., Feller N., Wanders R. J. Restoration of NADH-oxidation in complex I and complex III deficient fibroblasts by menadione Journal of inherited metabolic disease 1991;14 (3):293-296 [PubMed]
• Lageweg W., Tager J. M., Wanders R. J. Topography of very-long-chain-fatty-acid-activating activity in peroxisomes from rat liver Biochemical journal 1991;276 (1):53-56 [PubMed]
• de Craemer D., Zweens M. J., Lyonnet S., Wanders R. J., Poll-The B. T., Schutgens R. B., Waelkens J. J., Saudubray J. M., Roels F. Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data Virchows Archiv. A, Pathological anatomy and histopathology 1991;419 (6):523-525 [PubMed]
• van Maldergem L., Espeel M., Roels F., Petit C., Dacremont G., Wanders R. J., Verloes A., Gillerot Y. X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus Human genetics 1991;87 (6):661-664 [PubMed]

1990

• Wanders R. J., van Roermund C. W., Schelen A., Schutgens R. B., Tager J. M., Stephenson J. B., Clayton P. T. A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities Journal of inherited metabolic disease 1990;13 (3):375-379 [PubMed]
• Christensen E., van Eldere J., Brandt N. J., Schutgens R. B., Wanders R. J., Eyssen H. J. A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency Journal of inherited metabolic disease 1990;13 (3):363-366 [PubMed]
• Gray R. G., Green A., Schutgens R. B., Wanders R. J., Farndon P. A., Kennedy C. R. Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester Journal of inherited metabolic disease 1990;13 (3):380-382 [PubMed]
• Rocchiccioli F., Wanders R. J., Aubourg P., Vianey-Liaud C., IJlst L., Fabre M., Cartier N., Bougneres P. F. Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood Pediatric research 1990;28 (6):657-662 [PubMed]
• Wijburg F. A., Feller N., Ruitenbeek W., Trijbels J. M., Sengers R. C., Scholte H. R., Przyrembel H., Wanders R. J. Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts Journal of inherited metabolic disease 1990;13 (3):355-358 [PubMed]
• Przyrembel H., Wanders R. J., van Roermund C. W., Schutgens R. B., Mannaerts G. P., Casteels M. Di- and trihydroxycholestanoic acidaemia with hepatic failure Journal of inherited metabolic disease 1990;13 (3):367-370 [PubMed]
• Ruder H., Otto G., Schutgens R. B., Querfeld U., Wanders R. J., Herzog K. H., Wölfel P., Pomer S., Schärer K., Rose G. A. Excessive urinary oxalate excretion after combined renal and hepatic transplantation for correction of hyperoxaluria type 1 European journal of pediatrics 1990;150 (1):56-58 [PubMed]
• Wanders R. J., Schelen A., Feller N., Schutgens R. B., Stellaard F., Jakobs C., Mitulla B., Seidlitz G. First prenatal diagnosis of acyl-CoA oxidase deficiency Journal of inherited metabolic disease 1990;13 (3):371-374 [PubMed]
• Tager J. M., Brul S., Wiemer E. A., Strijland A., van Driel R., Schutgens R. B., van den Bosch H., Wanders R. J., Westerveld A. Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes Progress in clinical and biological research 1990;321:545-558 [PubMed]
• Wanders R. J., Ruiter J., van Roermund C. W., Schutgens R. B., Ofman R., Jurriaans S., Tager J. M. Human liver L-alanine-glyoxylate aminotransferase: characteristics and activity in controls and hyperoxaluria type I patients using a simple spectrophotometric method Clinica chimica acta; international journal of clinical chemistry 1990;189 (2):139-144 [PubMed]
• Wanders R. J., ten Brink H. J., van Roermund C. W., Schutgens R. B., Tager J. M., Jakobs C. Identification of pristanoyl-CoA oxidase activity in human liver and its deficiency in the Zellweger syndrome Biochemical and biophysical research communications 1990;172 (2):490-495 [PubMed]
• Wanders R. J., van Roermund C. W., Schelen A., Schutgens R. B., Tager J. M. Inborn errors of peroxisomal beta-oxidation: biochemical identification using enzymic and immunological methods Progress in clinical and biological research 1990;321:559-567 [PubMed]
• Wanders R. J., Boltshauser E., Steinmann B., Spycher M. A., Schutgens R. B., van den Bosch H., Tager J. M. Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report Journal of the neurological sciences 1990;98 (1):1-11 [PubMed]
• Wolvetang E. J., Tager J. M., Wanders R. J. Latency of the peroxisomal enzyme acyl-CoA:dihydroxyacetonephosphate acyltransferase in digitonin-permeabilized fibroblasts: the effect of ATP and ATPase inhibitors Biochemical and biophysical research communications 1990;170 (3):1135-1143 [PubMed]
• Willems P. J., Vits L., Wanders R. J., Coucke P. J., van der Auwera B. J., van Elsen A. F., Raeymaekers P., van Broeckhoven C., Schutgens R. B., Dacremont G. Linkage of DNA markers at Xq28 to adrenoleukodystrophy and adrenomyeloneuropathy present within the same family Archives of neurology 1990;47 (6):665-669 [PubMed]
• Wanders R. J., IJlst L., van Gennip A. H., Jakobs C., de Jager J. P., Dorland L., van Sprang F. J., Duran M. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation Journal of inherited metabolic disease 1990;13 (3):311-314 [PubMed]
• Wijburg F. A., Feller N., de Groot C. J., Wanders R. J. Menadione partially restores NADH-oxidation and ATP-synthesis in complex I deficient fibroblasts Biochemistry international 1990;22 (2):303-309 [PubMed]
• Barth P. G., Wanders R. J., Schutgens R. B., Bleeker-Wagemakers E. M., van Heemstra D. Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course European journal of pediatrics 1990;149 (10):722-726 [PubMed]
• Wolvetang E. J., Wanders R. J., Schutgens R. B., Berden J. A., Tager J. M. Properties of the ATPase activity associated with peroxisome-enriched fractions from rat liver: comparison with mitochondrial F1F0-ATPase BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS 1990;1035 (1):6-11 [PubMed]
• Wanders R. J., Zoeters P. H., Schutgens R. B., de Klerk J. B., Duran M., Wadman S. K., van Sprang F. J., Hemmes A. M., Voorbrood B. S. Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method Clinica chimica acta; international journal of clinical chemistry 1990;189 (3):327-334 [PubMed]
• Heikoop J. C., van Roermund C. W., Just W. W., Ofman R., Schutgens R. B., Heymans H. S., Wanders R. J., Tager J. M. Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme Journal of clinical investigation 1990;86 (1):126-130 [PubMed]
• Wanders R. J., van Roermund C. W., Schutgens R. B., Barth P. G., Heymans H. S., van den Bosch H., Tager J. M. The inborn errors of peroxisomal beta-oxidation: a review Journal of inherited metabolic disease 1990;13 (1):4-36 [PubMed]
• Beemer F. A., Wanders R. J., Schutgens R. B. VACTERL and hydrocephalus American journal of medical genetics 1990;37 (3):425-426 [PubMed]
• Wanders R. J., Heymans H. S., Schutgens R. B., van den Bosch H., Tager J. M., Theil A. Zellweger-syndroom en andere peroxisomale ziekten: II. (Bio)chemische karakteristieken van een nieuw-ontdekte groep van ziekten Nederlands tijdschrift voor geneeskunde 1990;134 (13):639-642 [PubMed]
• Heymans H. S., Wanders R. J., Schutgens R. B., van den Bosch H., Tager J. M., Barth P. G. Zellweger-syndroom en andere peroxisomale ziekten: I. Klinische karakteristieken van een nieuw-ontdekte groep van ziekten Nederlands tijdschrift voor geneeskunde 1990;134 (13):634-639 [PubMed]

1989

• Casteels M., van Roermund C. W., Schepers L., Govaert L., Eyssen H. J., Mannaerts G. P., Wanders R. J. Deficient oxidation of trihydroxycoprostanic acid in liver homogenates from patients with peroxisomal diseases Journal of inherited metabolic disease 1989;12 (4):415-422 [PubMed]
• Wijburg F. A., Barth P. G., Ruitenbeek W., Wanders R. J., Vos G. D., Ploos van Amstel S. L., Schutgens R. B. Familial NADH: Q1 oxidoreductase (complex I) deficiency: variable expression and possible treatment Journal of inherited metabolic disease 1989;12 (Suppl. 2):349-351 [PubMed]
• Wanders R. J., Romeyn G. J., Schutgens R. B., Tager J. M. L-pipecolate oxidase: a distinct peroxisomal enzyme in man Biochemical and biophysical research communications 1989;164 (1):550-555 [PubMed]
• Schutgens R. B., Schrakamp G., Wanders R. J., Heymans H. S., Tager J. M., van den Bosch H. Prenatal and perinatal diagnosis of peroxisomal disorders Journal of inherited metabolic disease 1989;12 (Suppl. 1):118-134 [PubMed]
• Wanders R. J., Wiemer E. A., Brul S., Schutgens R. B., van den Bosch H., Tager J. M. Prenatal diagnosis of Zellweger syndrome by direct visualization of peroxisomes in chorionic villus fibroblasts by immunofluorescence microscopy Journal of inherited metabolic disease 1989;12 (Suppl. 2):301-304 [PubMed]
• Wijburg F. A., Feller N., Scholte H. R., Przyrembel H., Wanders R. J. Studies on the formation of lactate and pyruvate from glucose in cultured skin fibroblasts: implications for detection of respiratory chain defects Biochemistry international 1989;19 (3):563-570 [PubMed]
• Wanders R. J., Duran M., IJlst L., de Jager J. P., van Gennip A. H., Jakobs C., Dorland L., van Sprang F. J. Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase Lancet 1989;2 (8653):52-53 [PubMed]
• Jakobs C., ten Brink H., Kok R. M., Stellaard F., Kleijer W. J., Wanders R. J., Schutgens R. B. Very long fatty acids in amniotic fluid from a fetus affected with Zellweger syndrome European journal of pediatrics 1989;148 (6):581 [PubMed]
• Wanders R. J., Barth P. G., Schutgens R. B., van den Bosch H., Tager J. M., Stroink H., Przyrembel H., Heymans H. S. X-gebonden adrenoleukodystrofie en andere peroxysomale ziekten veroorzaakt door een falend peroxysomaal beta-oxydatie systeem: klinische expressie, diagnostiek en behandeling Tijdschrift voor kindergeneeskunde 1989;57 (5):186-197 [PubMed]

1988

• Wanders R. J., Schutgens R. B., Zoeters P. H. 3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method Clinica chimica acta; international journal of clinical chemistry 1988;171 (1):95-101 [PubMed]
• van den Bosch H., Schalkwijk C. G., Schrakamp G., Wanders R. J., Schutgens R. B., Schram A. W., Tager J. M. Aberration in de novo ether lipid biosynthesis in peroxisomal disorders Progress in clinical and biological research 1988;282:139-150 [PubMed]
• Poll-The B. T., Roels F., Ogier H., Scotto J., Vamecq J., Schutgens R. B., Wanders R. J., van Roermund C. W., van Wijland M. J., Schram A. W. A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy) American journal of human genetics 1988;42 (3):422-434 [PubMed]
• Clayton P. T., Lake B. D., Hjelm M., Stephenson J. B., Besley G. T., Wanders R. J., Schram A. W., Tager J. M., Schutgens R. B., Lawson A. M. Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation Journal of inherited metabolic disease 1988;11 (Suppl. 2):165-168 [PubMed]
• Wanders R. J., van Roermund C. W., van Wijland M. J., Schutgens R. B., van den Bosch H., Schram A. W., Tager J. M. Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids Biochemical and biophysical research communications 1988;153 (2):618-624 [PubMed]
• Wanders R. J., van Roermund C. W., Jurriaans S., Schutgens R. B., Tager J. M., van den Bosch H., Wolff E. D., Przyrembel H., Berger R., Schaaphok F. G. Diversity in residual alanine glyoxylate aminotransferase activity in hyperoxaluria type I: correlation with pyridoxine responsiveness Journal of inherited metabolic disease 1988;11 (Suppl. 2):208-211 [PubMed]
• Brul S., Westerveld A., Strijland A., Wanders R. J., Schram A. W., Heymans H. S., Schutgens R. B., van den Bosch H., Tager J. M. Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis Journal of clinical investigation 1988;81 (6):1710-1715 [PubMed]
• Wanders R. J., Romeyn G. J., van Roermund C. W., Schutgens R. B., van den Bosch H., Tager J. M. Identification of L-pipecolate oxidase in human liver and its deficiency in the Zellweger syndrome Biochemical and biophysical research communications 1988;154 (1):33-38 [PubMed]
• Wanders R. J., van Roermund C. W., Schutgens R. B., van den Bosch H., Tager J. M. Impaired ability of peroxisomes to activate very-long-chain fatty acids in X-linked adrenoleukodystrophy Lancet 1988;2 (8603):170 [PubMed]
• Brul S., Wiemer E. A., Westerveld A., Strijland A., Wanders R. J., Schram A. W., Heymans H. S., Schutgens R. B., van den Bosch H., Tager J. M. Kinetics of the assembly of peroxisomes after fusion of complementary cell lines from patients with the cerebro-hepato-renal (Zellweger) syndrome and related disorders Biochemical and biophysical research communications 1988;152 (3):1083-1089 [PubMed]
• Barash V., Elpeleg O., Sheffer R., Mandel H., Wanders R. J. Measurement of 3-hydroxy-3-methylglutaryl-CoA lyase activity in amniotic cells and in chorionic villi Prenatal diagnosis 1988;8 (9):691 [PubMed]
• Wanders R. J., Heymans H. S., Schutgens R. B., Barth P. G., van den Bosch H., Tager J. M. Peroxisomal disorders in neurology Journal of the neurological sciences 1988;88 (1-3):1-39 [PubMed]
• Wanders R. J., Heymans H. S., Schutgens R. B., Poll-Thé B. T., Saudubray J. M., Tager J. M., Schrakamp G., van den Bosch H. Peroxisomal functions in classical Refsum's disease: comparison with the infantile form of Refsum's disease Journal of the neurological sciences 1988;84 (2-3):147-155 [PubMed]
• Wanders R. J., van Roermund C. W., van Wijland M. J., Schutgens R. B., Tager J. M., van den Bosch H., Thomas G. H. Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia Journal of inherited metabolic disease 1988;11 (Suppl. 2):161-164 [PubMed]
• Schrakamp G., Schalkwijk C. G., Schutgens R. B., Wanders R. J., Tager J. M., van den Bosch H. Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors Journal of lipid research 1988;29 (3):325-334 [PubMed]
• Wanders R. J., Schutgens R. B., Zoeters B. H. Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria via enzyme activity measurements in chorionic villi, chorionic villous fibroblasts or amniocytes using a simple spectrophotometric method Journal of inherited metabolic disease 1988;11 (4):430 [PubMed]
• Wanders R. J., Westerhoff H. V. Sigmoidal relation between mitochondrial respiration and log ([ATP]/[ADP])out under conditions of extramitochondrial ATP utilization. Implications for the control and thermodynamics of oxidative phosphorylation Biochemistry 1988;27 (20):7832-7840 [PubMed]
• Wanders R. J., van Roermund C. W., van Wijland M. J., Schutgens R. B., Schram A. W., Tager J. M., van den Bosch H., Schalkwijk C. X-linked adrenoleukodystrophy: identification of the primary defect at the level of a deficient peroxisomal very long chain fatty acyl-CoA synthetase using a newly developed method for the isolation of peroxisomes from skin fibroblasts Journal of inherited metabolic disease 1988;11 (Suppl. 2):173-177 [PubMed]

1987

• Wanders R. J., Smit W., Heymans H. S., Schutgens R. B., Barth P. G., Schierbeek H., Smit G. P., Berger R., Przyrembel H., Eggelte T. A. Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome Clinica chimica acta; international journal of clinical chemistry 1987;166 (1):45-56 [PubMed]
• Sturk A., Schaap M. C., Prins A., ten Cate J. W., Govaerts L. C., Wanders R. J., Heymans H. S., Schutgens R. B. Age-related deficiency of the synthesis of platelet activating factor by leukocytes from Zellweger patients Blood 1987;70 (2):460-463 [PubMed]
• Wanders R. J., van Roermund C. W., Westra R., Schutgens R. B., van der Ende M. A., Tager J. M., Monnens L. A., Baadenhuysen H., Govaerts L., Przyrembel H. Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndrome Clinica chimica acta; international journal of clinical chemistry 1987;165 (2-3):311-319 [PubMed]
• Barth P. G., Schutgens R. B., Wanders R. J., Heymans H. S., Moser A. E., Moser H. W., Bleeker-Wagemakers E. M., Jansonius-Schultheiss K., Derix M., Nelck G. F. A sibship with a mild variant of Zellweger syndrome Journal of inherited metabolic disease 1987;10 (3):253-259 [PubMed]
• van Eldere J. R., Parmentier G. G., Eyssen H. J., Wanders R. J., Schutgens R. B., Vamecq J., van Hoof F., Poll-The B. T., Saudubray J. M. Bile acids in peroxisomal disorders European journal of clinical investigation 1987;17 (5):386-390 [PubMed]
• Wanders R. J., Schutgens R. B., Heymans H. S. Deficient cholesterol side chain oxidation in patients without peroxisomes (Zellweger syndrome): evidence for the involvement of peroxisomes in bile acid synthesis in man Clinica chimica acta; international journal of clinical chemistry 1987;162 (3):295-301 [PubMed]
• Schutgens R. B., Wanders R. J., Nijenhuis A., van den Hoek C. M., Heymans H. S., Schrakamp G., Bleeker-Wagemakers E. M., Delleman J. W., Schram A. W., Tager J. M. Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies Enzyme 1987;38 (1-4):161-176 [PubMed]
• Wanders R. J., Schutgens R. B., Schrakamp G., Tager J. M., van den Bosch H., Moser A. B., Moser H. W. Neonatal adrenoleukodystrophy. Impaired plasmalogen biosynthesis and peroxisomal beta-oxidation due to a deficiency of catalase-containing particles (peroxisomes) in cultured skin fibroblasts Journal of the neurological sciences 1987;77 (2-3):331-340 [PubMed]
• Westerhoff H. V., Plomp P. J., Groen A. K., Wanders R. J., Bode J. A., van Dam K. On the origin of the limited control of mitochondrial respiration by the adenine nucleotide translocator Archives of biochemistry and biophysics 1987;257 (1):154-169 [PubMed]
• Oorthuys J. W., Loewer-Sieger D. H., Schutgens R. B., Wanders R. J., Heymans H. S., Bleeker-Wagemakers E. M. Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type Ophthalmic paediatrics and genetics 1987;8 (3):183-185 [PubMed]
• Wanders R. J., van Roermund C. W., van Wijland M. J., Schutgens R. B., Heikoop J., van den Bosch H., Schram A. W., Tager J. M. Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders Journal of clinical investigation 1987;80 (6):1778-1783 [PubMed]
• Wanders R. J., van Roermund C. W., van Wijland M. J., Heikoop J., Schutgens R. B., Schram A. W., Tager J. M., van den Bosch H., Poll-Thé B. T., Saudubray J. M. Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders Clinica chimica acta; international journal of clinical chemistry 1987;166 (2-3):255-263 [PubMed]
• Wanders R. J., Barth P. G., van Roermund C. W., Ofman R., Wolterman R., Schutgens R. B., Tager J. M., van den Bosch H., Bolhuis P. A. Peroxisomes and peroxisomal functions in muscle. Studies with muscle cells from controls and a patient with the cerebro-hepato-renal (Zellweger) syndrome Experimental cell research 1987;170 (1):147-152 [PubMed]
• Poll-The B. T., Saudubray J. M., Rocchiccioli F., Scotto J., Roels F., Boue J., Ogier H., DUMEZ Y., Wanders R. J. A., Schutgens R. B. H., Schram A. W., Tager J. M. PRENATAL-DIAGNOSIS AND CONFIRMATION OF INFANTILE REFSUMS DISEASE Journal of inherited metabolic disease 1987;10 (2):229-232
• Wanders R. J., van Wijland M. J., van Roermund C. W., Schutgens R. B., van den Bosch H., Tager J. M., Nijenhuis A., Tromp A. Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26:0) beta-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders Clinica chimica acta; international journal of clinical chemistry 1987;165 (2-3):303-310 [PubMed]
• Westerhoff H. V., Plomp P. J., Groen A. K., Wanders R. J. Thermodynamics of the control of metabolism Cell biophysics 1987;11:239-267 [PubMed]
• Wanders R. J., van Roermund C. W., van Wijland M. J., Nijenhuis A. A., Tromp A., Schutgens R. B., Brouwer-Kelder E. M., Schram A. W., Tager J. M., van den Bosch H. X-linked adrenoleukodystrophy: defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters Clinica chimica acta; international journal of clinical chemistry 1987;165 (2-3):321-329 [PubMed]
• Schutgens R. B., Wanders R. J., Heymans H. S., Schram A. W., Tager J. M., Schrakamp G., van den Bosch H. Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment Journal of inherited metabolic disease 1987;10 (Suppl. 1):33-45 [PubMed]

1986

• Schutgens R. B., Romeyn G. J., Ofman R., van den Bosch H., Tager J. M., Wanders R. J. Acyl-CoA:dihydroxyacetone phosphate acyltransferase in human skin fibroblasts: study of its properties using a new assay method BIOCHIMICA ET BIOPHYSICA ACTA-LIPIDS AND LIPID METABOLISM 1986;879 (3):286-291 [PubMed]
• Wanders R. J., Purvis Y. R., Heymans H. S., Bakkeren J. A., Parmentier G. G., van Eldere J., Eyssen H., van den Bosch H., Tager J. M., Schutgens R. B. Age-related differences in plasmalogen content of erythrocytes from patients with the cerebro-hepato-renal (Zellweger) syndrome: implications for postnatal detection of the disease Journal of inherited metabolic disease 1986;9 (4):335-342 [PubMed]
• Wanders R. J., Schrakamp G., van den Bosch H., Tager J. M., Schutgens R. B. A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells European journal of pediatrics 1986;145 (1-2):136-138 [PubMed]
• Schram A. W., Strijland A., Hashimoto T., Wanders R. J., Schutgens R. B., van den Bosch H., Tager J. M. Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease Proceedings of the National Academy of Sciences of the United States of America 1986;83 (16):6156-6158 [PubMed]
• Wanders R. J. A., Schutgens R. B. H., Schrakamp G., VANDENBOSCH H., Tager J. M., POLLTHE B. T., Saudubray J. M. DEFICIENCY OF DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE AND CATALASE-CONTAINING PARTICLES IN PATIENTS WITH INFANTILE REFSUMS DISEASE Journal of inherited metabolic disease 1986;9 (2):325-328
• Wanders R. J., Saelman D., Heymans H. S., Schutgens R. B., Westerveld A., Poll-Thé B. T., Saudubray J. M., van den Bosch H., Strijland A., Schram A. W. Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata New England journal of medicine 1986;314 (12):787-788 [PubMed]
• Poll-Thé B. T., Ogier H., Saudubray J. M., Schutgens R. B., Wanders R. J., van den Bosch H., Schrakamp G. Impaired plasmalogen metabolism in infantile Refsum's disease European journal of pediatrics 1986;144 (5):513-514 [PubMed]
• Wanders R. J., Schutgens R. B., Schrakamp G., van den Bosch H., Tager J. M., Schram A. W., Hashimoto T., Poll-Thé B. T., Saudubrau J. M. Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins European journal of pediatrics 1986;145 (3):172-175 [PubMed]
• Poll-The B. T., Saudubray J. M., Ogier H., Schutgens R. B., Wanders R. J., Schrakamp G., van den Bosch H., Trijbels J. M., Poulos A., Moser H. W. Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction Journal of inherited metabolic disease 1986;9 (2):169-174 [PubMed]
• Bleeker-Wagemakers E. M., Oorthuys J. W., Wanders R. J., Schutgens R. B. Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome Clinical genetics 1986;29 (2):160-164 [PubMed]
• Vamecq J., Draye J. P., van Hoof F., Misson J. P., Evrard P., Verellen G., Eyssen H. J., van Eldere J., Schutgens R. B., Wanders R. J. Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy American journal of pathology 1986;125 (3):524-535 [PubMed]
• Wanders R. J., van Roermund C. W., de Vries C. T., van den Bosch H., Schrakamp G., Tager J. M., Schram A. W., Schutgens R. B. Peroxisomal beta-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome Clinica chimica acta; international journal of clinical chemistry 1986;159 (1):1-10 [PubMed]
• Schutgens R. B., Heymans H. S., Wanders R. J., van den Bosch H., Tager J. M. Peroxisomal disorders: a newly recognised group of genetic diseases European journal of pediatrics 1986;144 (5):430-440 [PubMed]
• Verhoeven A. J., van Roermund C. W., Plomp P. J., Wanders R. J., Groen A. K., Tager J. M. Regulation of mitochondrial respiration in liver Advances in experimental medicine and biology 1986;194:241-254 [PubMed]
• Cohen L. H., Griffioen A. M., Wanders R. J., van Roermund C. W., Huysmans C. M., Princen H. M. Regulation of squalene synthetase activity in rat liver: elevation by cholestyramine, but no diurnal variation Biochemical and biophysical research communications 1986;138 (1):335-341 [PubMed]

1985

• Schrakamp G., Roosenboom C. F., Schutgens R. B., Wanders R. J., Heymans H. S., Tager J. M., van den Bosch H. Alkyl dihydroxyacetone phosphate synthase in human fibroblasts and its deficiency in Zellweger syndrome Journal of lipid research 1985;26 (7):867-873 [PubMed]
• BURNS J. A., CORNISHBOWDEN A., Groen A. K., HEINRICH R., KACSER H., PORTEOUS J. W., RAPOPORT S. M., RAPOPORT T. A., STUCKI J. W., Tager J. M., Wanders R. J. A., Westerhoff H. V. CONTROL ANALYSIS OF METABOLIC SYSTEMS Trends in biochemical sciences 1985;10 (1):16
• Wanders R. J., van Weringh G., Schrakamp G., Tager J. M., van den Bosch H., Schutgens R. B. Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in thrombocytes of Zellweger patients: a simple postnatal diagnostic test Clinica chimica acta; international journal of clinical chemistry 1985;151 (3):217-221 [PubMed]
• Tager J. M., van der Beek W. A., Wanders R. J., Hashimoto T., Heymans H. S., van den Bosch H., Schutgens R. B., Schram A. W. Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome Biochemical and biophysical research communications 1985;126 (3):1269-1275 [PubMed]
• Wanders R. J., Schutgens R. B., Tager J. M. Peroxisomal matrix enzymes in Zellweger syndrome: activity and subcellular localization in liver Journal of inherited metabolic disease 1985;8 (Suppl. 2):151-152 [PubMed]
• Schutgens R. B., Heymans H. S., Wanders R. J., van den Bosch H., Schrakamp G. Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis Journal of inherited metabolic disease 1985;8 (Suppl. 2):153-154 [PubMed]
• Heymans H. S., Oorthuys J. W., Nelck G., Wanders R. J., Schutgens R. B. Rhizomelic chondrodysplasia punctata: another peroxisomal disorder New England journal of medicine 1985;313 (3):187-188 [PubMed]
• Schutgens R. B., Schrakamp G., Wanders R. J., Heymans H. S., Moser H. W., Moser A. E., Tager J. M., Bosch H. V., Aubourg P. The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens Prenatal diagnosis 1985;5 (5):337-344 [PubMed]
• Woelders H., van der Zande W. J., Colen A. M., Wanders R. J., van Dam K. The phosphate potential maintained by mitochondria in State 4 is proportional to the proton-motive force FEBS letters 1985;179 (2):278-282 [PubMed]

1984

• Wanders R. J., Kos M., Roest B., Meijer A. J., Schrakamp G., Heymans H. S., Tegelaers W. H., van den Bosch H., Schutgens R. B., Tager J. M. Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome Biochemical and biophysical research communications 1984;123 (3):1054-1061 [PubMed]
• Wanders R. J., van Roermund C. W., Meijer A. J. Analysis of the control of citrulline synthesis in isolated rat-liver mitochondria European Journal of Biochemistry / FEBS 1984;142 (2):247-254 [PubMed]
• Wanders R. J., van den Berg G. B., Tager J. M. A re-evaluation of conditions required for an accurate estimation of the extramitochondrial ATP/ADP ratio in isolated rat-liver mitochondria BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS 1984;767 (1):113-119 [PubMed]
• Schutgens R. B., Romeyn G. J., Wanders R. J., van den Bosch H., Schrakamp G., Heymans H. S. Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome Biochemical and biophysical research communications 1984;120 (1):179-184 [PubMed]
• Schutgens R. B., Heymans H. S., Purvis R., Wanders R. J., Schrakamp G., van den Bosch H. Diagnostiek van het cerebro-hepato-renale syndroom van Zellweger Tijdschrift voor kindergeneeskunde 1984;52 (6):231-238 [PubMed]
• Wanders R. J., Groen A. K., van Roermund C. W., Tager J. M. Factors determining the relative contribution of the adenine-nucleotide translocator and the ADP-regenerating system to the control of oxidative phosphorylation in isolated rat-liver mitochondria European Journal of Biochemistry / FEBS 1984;142 (2):417-424 [PubMed]
• Westerhoff H. V., Groen A. K., Wanders R. J. Modern theories of metabolic control and their applications (review) Bioscience reports 1984;4 (1):1-22 [PubMed]
• Schutgens R. B., Heymans H. S., Wanders R. J., vd Bosch H., Schrakamp G. Prenatal detection of Zellweger syndrome Lancet 1984;2 (8415):1339-1340 [PubMed]

1983

• Wanders R. J., Meijer A. J., Groen A. K., Tager J. M. Bicarbonate and the pathway of glutamate oxidation in isolated rat-liver mitochondria European Journal of Biochemistry / FEBS 1983;133 (1):245-254 [PubMed]
• Tager J. M., Groen A. K., Wanders R. J., Duszynski J., Westerhoff H. V., Vervoorn R. C. Control of mitochondrial respiration Biochemical Society transactions 1983;11 (1):40-43 [PubMed]
• Tager J. M., Wanders R. J., Groen A. K., Kunz W., Bohnensack R., Küster U., Letko G., Böhme G., Duszynski J., Wojtczak L. Control of mitochondrial respiration FEBS letters 1983;151 (1):1-9 [PubMed]
• Wanders R. J., van Roermund C., Lof C., Meijer A. J. Fluorimetric determination of carbamoyl phosphate Analytical biochemistry 1983;129 (1):80-87 [PubMed]
• Gankema H. S., Groen A. K., Wanders R. J., Tager J. M. Measurement of binding of adenine nucleotides and phosphate to cytosolic proteins in permeabilized rat-liver cells European Journal of Biochemistry / FEBS 1983;131 (2):447-451 [PubMed]
• Lof C., Cohen M., Vermeulen L. P., van Roermund C. W., Wanders R. J., Meijer A. J. Properties of carbamoyl-phosphate synthetase (ammonia) in rat-liver mitochondria made permeable with toluene European Journal of Biochemistry / FEBS 1983;135 (2):251-258 [PubMed]

1982

• Lof C., Wanders R. J., Meijer A. J. Activity of carbamoyl-phosphate synthetase (ammonia) in isolated rat-liver mitochondria: cycling of carbamoyl phosphate in the absence of ornithine European Journal of Biochemistry / FEBS 1982;124 (1):89-94 [PubMed]
• Groen A. K., Vervoorn R. C., Wanders R. J., van der Meer R., Tager J. M. An evaluation of the metabolite indicator method for determining the cytosolic phosphate potential in rat liver cells BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH 1982;721 (2):172-177 [PubMed]
• Groen A. K., Wanders R. J., Westerhoff H. V., van der Meer R., Tager J. M. Quantification of the contribution of various steps to the control of mitochondrial respiration Journal of biological chemistry 1982;257 (6):2754-2757 [PubMed]
• Duszynski J., Groen A. K., Wanders R. J., Vervoorn R. C., Tager J. M. Quantification of the role of the adenine nucleotide translocator in the control of mitochondrial respiration in isolated rat-liver cells FEBS letters 1982;146 (2):262-266 [PubMed]
• Meijer A. J., van Woerkom G. M., Wanders R. J., Lof C. Transport of N-acetylglutamate in rat-liver mitochondria European Journal of Biochemistry / FEBS 1982;124 (2):325-330 [PubMed]

1981

• Tager J. M., Wanders R. J., Groen A. K., van der Meer R., Akerboom T. P., Meijer A. J. Control mechanisms of energy-dependent metabolic pathways in hepatocytes Acta biologica et medica Germanica 1981;40 (7-8):895-906 [PubMed]
• Wanders R. J., Groen A. K., Meijer A. J., Tager J. M. Determination of the free-energy difference of the adenine nucleotide translocator reaction in rat-liver mitochondria using intra- and extramitochondrial ATP-utilizing reactions FEBS letters 1981;132 (2):201-206 [PubMed]
• Wanders R. J., van Woerkom G. M., Nooteboom R. F., Meijer A. J., Tager J. M. Relationship between the rate of citrulline synthesis and bulk changes in the intramitochondrial ATP/ADP ratio in rat-liver mitochondria European Journal of Biochemistry / FEBS 1981;113 (2):295-302 [PubMed]
• Wanders R. J., van Doorn H. E., Tager J. M. The energy-linked transhydrogenase in rat liver in relation to the reductive carboxylation of 2-oxoglutarate European Journal of Biochemistry / FEBS 1981;116 (3):609-614 [PubMed]

1980

• Wanders R. J., Hoek J. B., Tager J. M. Origin of the ammonia found in protein-free extracts of rat-liver mitochondria and rat hepatocytes European Journal of Biochemistry / FEBS 1980;110 (1):197-202 [PubMed]