Prof. H.R. Waterham PhD publications

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Publications Prof. H.R. Waterham PhD

Position
Full Professor
Main activities
Education, Patient care, Research
Specialisation
Functional genetics, Clinical Laboratory Geneticist
Focus of research

Functional genetics and molecular biology of metabolic disorders in general but with focus on inborn errors of isoprenoid/cholesterol biosynthesis and peroxisome biogenesis.

 

2020

  • Smits B. M., Lelieveld P. H. C., Ververs F. A., Turkenburg M., de Koning C., van Dijk M., Leavis H. L., Boelens J. J., Lindemans C. A., Bloem A. C., van de Corput L., van Montfrans J., Nierkens S., van Gijn M. E., Geerke D. P., Waterham H. R., Koenderman L., Boes M. A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease Clinical immunology (Orlando, Fla.) 2020;212 [PubMed]
  • Barendsen Rinse W., Dijkstra Inge M. E., Visser Wouter F., Alders Mariëlle, Bliek Jet, Boelen Anita, Bouva Marelle J., van der Crabben Saskia N., Elsinghorst Ellen, van Gorp Ankie G. M., Heijboer Annemieke C., Jansen Mandy, Jaspers Yorrick R. J., van Lenthe Henk, Metgod Ingrid, Mooij Christiaan F., van der Sluijs Elise H. C., van Trotsenburg A. S. Paul, Verschoof-Puite Rendelien K., Vaz Frédéric M., Waterham Hans R., Wijburg Frits A., Engelen Marc, Dekkers Eugènie, Kemp Stephan Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor Frontiers in cell and developmental biology 2020;8 [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 [PubMed]
  • Pop Ana, Smith Desirée E. C., Kirby Trevor, Walters Dana, Gibson K. Michael, Mahmoudi Soufiane, van Dooren Silvy J. M., Kanhai Warsha A., Fernandez-Ojeda Matilde R., Wever Eric J. M., Koster Janet, Waterham Hans R., Grob Bram, Roos Birthe, Wamelink Mirjam M. C., Chen Justin, Natesan Senthil, Salomons Gajja S. Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency Molecular genetics and metabolism 2020 [PubMed]
  • Helman Guy, Lajoie Bryan R., Crawford Joanna, Takanohashi Asako, Walkiewicz Marzena, Dolzhenko Egor, Gross Andrew M., Gainullin Vladimir G., Bent Stephen J., Jenkinson Emma M., Ferdinandusse Sacha, Waterham Hans R., Dorboz Imen, Bertini Enrico, Miyake Noriko, Wolf Nicole I., Abbink Truus E. M., Kirwin Susan M., Tan Christina M., Hobson Grace M., Guo Long, Ikegawa Shiro, Pizzino Amy, Schmidt Johanna L., Bernard Genevieve, Schiffmann Raphael, van der Knaap Marjo S., Simons Cas, Taft Ryan J., Vanderver Adeline Genome sequencing in persistently unsolved white matter disorders Annals of clinical and translational neurology 2020;7 (1):144-152 [PubMed]
  • Chapel-Crespo Cristel C., Villalba Ricardo, Wang Raymond, Boyer Monica, Chang Richard, Waterham Hans R., Abdenur Jose E. Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency Molecular genetics and metabolism reports 2020;24 [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]
  • Jager Emmalie A., Kuijpers Myrthe M., Bosch Annet M., Mulder Margot F., Gozalbo Estela R., Visser Gepke, de Vries Maaike, Williams Monique, Waterham Hans R., van Spronsen Francjan J., Schielen Peter C. J. I., Derks Terry G. J. A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands Journal of inherited metabolic disease 2019;42 (5):890-897 [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]
  • Lismont Celien, Koster Janet, Provost Sarah, Baes Myriam, van Veldhoven Paul P., Waterham Hans R., Fransen Marc Deciphering the potential involvement of PXMP2 and PEX11B in hydrogen peroxide permeation across the peroxisomal membrane reveals a role for PEX11B in protein sorting BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES 2019;1861 (1) [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]
  • Bleeker Jeannette C., Kok Irene L., Ferdinandusse Sacha, de Vries Maaike, Derks Terry G. J., Mulder Margot F., Williams Monique, Rubio Gozalbo Estela, Bosch Annet M., van den Hurk Dorine T., de Sain-van der Velden Monique G. M., Waterham Hans R., Wijburg Frits A., Visser Gepke Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency Journal of inherited metabolic disease 2019;42 (1):159-168 [PubMed]
  • Chinopoulos Christos, Wevers Ron A., Waterham Hans R., Zafeiriou Dimitrios Response to “Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C>A” Molecular genetics and metabolism reports 2019;18:10 [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

  • 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]
  • 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]
  • Klouwer F. C. C., Meester-Delver A., Vaz F. M., Waterham H. R., Hennekam R. C. M., Poll-The B. T. Development and validation of a severity scoring system for Zellweger spectrum disorders Clinical genetics 2018;93 (3):613-621 [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.)
  • 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., 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]
  • Coman David, Vissers Lisenka E. L. M., Riley Lisa G., Kwint Michael P., Hauck Roxanna, Koster Janet, Geuer Sinje, Hopkins Sarah, Hallinan Barbra, Sweetman Larry, Engelke Udo F. H., Burrow T. Andrew, Cardinal John, McGill James, Inwood Anita, Gurnsey Christine, Waterham Hans R., Christodoulou John, Wevers Ron A., Pitt James Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis American journal of human genetics 2018;103 (1):125-130 [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]
  • 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]
  • Klouwer Femke C. C. Zellweger spectrum disorders: From bench to bedside 2018. ISBN 9789462998391. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Waterham H. R., Poll-The B. T.; Co-supervisor: Engelen M.)

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]
  • Chatzispyrou Iliana A., Alders Marielle, Guerrero-Castillo Sergio, Zapata Perez Ruben, Haagmans Martin A., Mouchiroud Laurent, Koster Janet, Ofman Rob, Baas Frank, Waterham Hans R., Spelbrink Johannes N., Auwerx Johan, Mannens Marcel M., Houtkooper Riekelt H., Plomp Astrid S. A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome Human molecular genetics 2017;26 (13):2541-2550 [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]
  • Bjørgo Kathrine, Fjær Roar, Mørk Hanne Håberg, Ferdinandusse Sacha, Falkenberg Kim D., Waterham Hans R., Øye Ane-Marte, Sikiric Alma, Amundsen Silja Svanstrøm, Kulseth Mari Ann, Selmer Kaja Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder Molecular genetics and metabolism 2017;121 (4):325-328 [PubMed]
  • 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]
  • 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]
  • 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.)
  • 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]
  • van Herpe Filip, Waterham Hans R., Adams Christopher J., Mannens Marcel, Bikker Hennie, Vaz Frédéric M., Cassiman David NTCP deficiency and persistently raised bile salts: an adult case Journal of inherited metabolic disease 2017;40 (3):313-315 [PubMed]
  • Klouwer Femke C. C., Koster Janet, Ferdinandusse Sacha, Waterham Hans R. Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line Histochemistry and cell biology 2017;147 (4):537-541 [PubMed]
  • Dorninger Fabian, Herbst Ruth, Kravic Bojana, Camurdanoglu Bahar Z., Macinkovic Igor, Zeitler Gerhard, Forss-Petter Sonja, Strack Siegfried, Khan Muzamil Majid, Waterham Hans R., Rudolf Rüdiger, Hashemolhosseini Said, Berger Johannes Reduced muscle strength in ether lipid-deficient mice is accompanied by altered development and function of the neuromuscular junction Journal of neurochemistry 2017;143 (5):569-583 [PubMed]
  • Bleeker Jeannette C., Visser Gepke, Wijburg Frits A., Ferdinandusse Sacha, Waterham Hans R., Nikkels Peter G. J. Severe Fat Accumulation in Multiple Organs in Pediatric Autopsies: An Uncommon but Significant Finding Pediatric and developmental pathology 2017;20 (4):269-276 [PubMed]
  • Stepien Karolina M., Wierzbicki Anthony S., Poll-The Bwee T., Waterham Hans R., Hendriksz Christian J. The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency JIMD reports 2017;33:49-53 [PubMed]
  • Koster Janet, Waterham Hans R. Transfection of Primary Human Skin Fibroblasts for Peroxisomal Studies Methods in molecular biology (Clifton, N.J.) 2017;1595:63-67 [PubMed]

2016

  • Lüsebrink Natalia, Porto Luciana, Waterham Hans R., Ferdinandusse Sacha, Rosewich Hendrik, Kurlemann Gerd, Kieslich Matthias Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder European journal of paediatric neurology : EJPN 2016;20 (2):331-335 [PubMed]
  • Horoz Ozden O., Mungan Neslihan O., Yildizdas Dincer, Hergüner Özlem, Ceylaner Serdar, Kör Deniz, Waterham Hans, Coskun Turgay Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin Journal of pediatric endocrinology & metabolism 2016;29 (2):227-231 [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]
  • Jeyaratnam Jerold, ter Haar Nienke M., de Sain-van der Velden Monique G. M., Waterham Hans R., van Gijn Mariëlle E., Frenkel Joost Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD) JIMD reports 2016;27:33-38 [PubMed]
  • Messer Laurent, Alsaleh Ghada, Georgel Philippe, Carapito Raphael, Waterham Hans R., Dali-Youcef Nassim, Bahram Siamak, Sibilia Jean Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) RMD open 2016;2 (1):e000196 [PubMed]
  • 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]
  • 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
  • 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]
  • 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]
  • Frenkel Joost, Waterham Hans R. Mevalonate Kinase Deficiencyin: Carla E.M. Hollak, Robin Lachmann, editors. Inherited Metabolic Disease in Adults: A Clinical Guide. Oxford University Press; 2016. p. 235-238, ISBN 9780199972135
  • 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]
  • 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
  • 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]
  • Diekman Eugene, de Sain-van der Velden Monique, Waterham Hans, Kluijtmans Leo, Schielen Peter, van Veen Evert Ben, Ferdinandusse Sacha, Wijburg Frits, Visser Gepke The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency JIMD reports 2016;27:101-106 [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]
  • 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]
  • 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]
  • Rosewich Hendrik, Waterham Hans, Poll-The Bwee Tien, Ohlenbusch Andreas, Gärtner Jutta Clinical utility gene card for: Zellweger syndrome spectrum European journal of human genetics 2015;23 (8):E1-E4 [PubMed]
  • Jeyaratnam J., ter Haar N., de Sain-van der Velden M., Waterham H., van Gijn M., Frenkel J. Diagnostic value of urinary mevalonic acid excretion in patietns with a clinical suspicion of mevalonate kinase deficiency (MKD) Pediatric rheumatology online journal 2015;13 (Suppl. 1)
  • 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]
  • Ratbi Ilham, Falkenberg Kim D., Sommen Manou, Al-Sheqaih Nada, Guaoua Soukaina, Vandeweyer Geert, Urquhart Jill E., Chandler Kate E., Williams Simon G., Roberts Neil A., El Alloussi Mustapha, Black Graeme C., Ferdinandusse Sacha, Ramdi Hind, Heimler Audrey, Fryer Alan, Lynch Sally-Ann, Cooper Nicola, Ong Kai Ren, Smith Claire E. L., Inglehearn Christopher F., Mighell Alan J., Elcock Claire, Poulter James A., Tischkowitz Marc, Davies Sally J., Sefiani Abdelaziz, Mironov Aleksandr A., Newman William G., Waterham Hans R., van Camp Guy Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 American journal of human genetics 2015;97 (4):535-545 [PubMed]
  • Baker Alison, Carrier David J., Schaedler Theresia, Waterham Hans R., van Roermund Carlo W., Theodoulou Frederica L. Peroxisomal ABC transporters: functions and mechanism Biochemical Society transactions 2015;43 (5):959-965 [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]

2014

  • Hartill Verity L., Tysoe Carolyn, Manning Nigel, Dobbie Angus, Santra Saikat, Walter John, Caswell Richard, Koster Janet, Waterham Hans, Hobson Emma An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene American journal of medical genetics. Part A 2014;164A (4):907-914 [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]
  • Mendiondo Guillermina M., Medhurst Anne, van Roermund Carlo W., Zhang Xuebin, Devonshire Jean, Scholefield Duncan, Fernández José, Axcell Barry, Ramsay Luke, Waterham Hans R., Waugh Robbie, Theodoulou Frederica L., Holdsworth Michael J. Barley has two peroxisomal ABC transporters with multiple functions in β-oxidation Journal of experimental botany 2014;65 (17):4833-4847 [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]
  • Wang Raymond Y., Monuki Edwin S., Powers James, Schwartz Phillip H., Watkins Paul A., Shi Yang, Moser Ann, Shrier David A., Waterham Hans R., Nugent Diane J., Abdenur Jose E. Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study Journal of inherited metabolic disease 2014;37 (5):791-799 [PubMed]
  • van Rijt Willemijn J., Heiner-Fokkema M. Rebecca, du Marchie Sarvaas Gideon J., Waterham Hans R., Blokpoel Robert G. T., van Spronsen Francjan J., Derks Terry G. J. Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD Pediatrics 2014;134 (4):e1224-e1228 [PubMed]
  • Rumping Lynne, Waterham Hans R., Kok Irene, van Hasselt Peter M., Visser Gepke Hereditaire fructose-intolerantie Nederlands tijdschrift voor geneeskunde 2014;158:A6889 [PubMed]
  • 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
  • van der Burgh Robert, Pervolaraki Kalliopi, Turkenburg Marjolein, Waterham Hans R., Frenkel Joost, Boes Marianne Unprenylated RhoA contributes to IL-1β hypersecretion in mevalonate kinase deficiency model through stimulation of Rac1 activity Journal of biological chemistry 2014;289 (40):27757-27765 [PubMed]

2013

  • Sollie Annet, Sijmons Rolf H., Lindhout Dick, van der Ploeg Ans T., Rubio Gozalbo M. Estela, Smit G. Peter A., Verheijen Frans, Waterham Hans R., van Weely Sonja, Wijburg Frits A., Wijburg Rudolph, Visser Gepke A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing Human mutation 2013;34 (7):967-973 [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]
  • 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
  • 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]
  • 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]
  • Borovik Lior, Modaff Peggy, Waterham Hans R., Krentz Anthony D., Pauli Richard M. Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR American journal of medical genetics. Part A 2013;161 (8):2066-2073 [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]
  • 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]
  • Bams-Mengerink Annemieke M., Koelman Johannes Htm, Waterham Hans, Barth Peter G., Poll-The Bwee Tien The neurology of rhizomelic chondrodysplasia punctata Orphanet journal of rare diseases 2013;8 (1):174 [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]

2012

  • Oudesluijs Grétel, Simon Marleen E. H., Burggraaf Rianne H. J., Waterham Hans R., Hennekam Raoul C. M. Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations American journal of medical genetics. Part A 2012;158A (2):292-297 [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]
  • Koy Anne, Pillekamp Frank, Hoehn Thomas, Waterham Hans, Klee Dirk, Mayatepek Ertan, Assmann Birgit Brown-Vialetto-Van Laere Syndrome: A Riboflavin-Unresponsive Patient With a Novel Mutation in the C20orf54 Gene Pediatric neurology 2012;46 (6):407-409 [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]
  • 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]
  • Waterham Hans R., Clayton Peter T. Disorders of Cholesterol Synthesisin: 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. 461-471, ISBN 9783642157196
  • Waterham Hans R., Ebberink Merel S. Genetics and molecular basis of human peroxisome biogenesis disorders BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2012;1822 (9):1430-1441 [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]
  • Waterham Hans R., Hennekam Raoul C. M. Mutational spectrum of Smith-Lemli-Opitz syndrome American journal of medical genetics. Part C, Seminars in medical genetics 2012;160 (4):263-284 [PubMed]
  • Sinha Aditi, Waterham Hans R., Sreedhar K. Vijesh, Jain Vandana Novel Mutations causing Hyperimmunoglobulin D and Periodic Fever Syndrome Indian pediatrics 2012;49 (7):583-585 [PubMed]
  • 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]
  • 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]
  • 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]
  • 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]
  • 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]
  • 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]
  • 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]
  • Westermann C. M., Dorland L., van Diggelen O. P., Schoonderwoerd K., Bierau J., Waterham H. R., van der Kolk J. H. Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD Molecular genetics and metabolism 2011;104 (3):273-278 [PubMed]
  • Schaaf Christian P., Koster Janet, Katsonis Panagiotis, Kratz Lisa, Shchelochkov Oleg A., Scaglia Fernando, Kelley Richard I., Lichtarge Olivier, Waterham Hans R., Shinawi Marwan Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature American journal of medical genetics. Part A 2011;155A (7):1597-1604 [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]
  • 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, van Cruchten Arno G., Kulik Willem, Waterham Hans R. Inhibition of the isoprenoid biosynthesis pathway; detection of intermediates by UPLC-MS/MS BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2011;1811 (4):227-233 [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.)
  • 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.)
  • 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

  • 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]
  • 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]
  • Henneman L., Schneiders M. S., Turkenburg M., Waterham H. R. Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency Journal of inherited metabolic disease 2010;33 (5):625-632 [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]
  • 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.)
  • 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]
  • 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]
  • Zwijnenburg P. J. G., Deurloo K. L., Waterham H. R., Meijers-Heijboer E. J., van Vugt J. M. G., Tan-Sindhunata M. B. Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings Prenatal diagnosis 2010;30 (2):162-164 [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]
  • 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]
  • Flanagan J. M., McMahon G., Brendan Chia S. H., Fitzpatrick P., Tighe O., O'Neill C., Briones P., Gort L., Kozak L., Magee A., Naughten E., Radomyska B., Schwartz M., Shin J. S., Strobl W. M., Tyfield L. A., Waterham H. R., Russell H., Bertorelle G., Reichardt J. K. V., Mayne P. D., Croke D. T. The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations Heredity 2010;104 (2):148-154 [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]

2009

  • 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]
  • 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]
  • 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]
  • Williams Emma L., Acquaviva Cecile, Amoroso Antonio, Chevalier Francoise, Coulter-Mackie Marion, Monico Carla G., Giachino Daniela, Owen Tricia, Robbiano Angela, Salido Eduardo, Waterham Hans, Rumsby Gill Primary Hyperoxaluria Type 1: Update and Additional Mutation Analysis of the AGXT Gene Human mutation 2009;30 (6):910-917 [PubMed]
  • Sethi Sidharth Kumar, Waterham Hans R., Sharma Sonika, Sharma Alok, Hari Pankaj, Bagga Arvind Primary hyperoxaluria type 1 with a novel mutation Indian journal of pediatrics 2009;76 (2):215-217 [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

  • Henneman Linda, van Cruchten Arno G., Denis Simone W., Amolins Michael W., Placzek Andrew T., Gibbs Richard A., Kulik Willem, Waterham Hans R. Detection of nonsterol isoprenoids by HPLC-MS/MS Analytical biochemistry 2008;383 (1):18-24 [PubMed]
  • 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]
  • Waterham H. R., Duran M. Diagnosis of Inherited Defects of Cholesterol Biosynthesisin: Nenad Blau, Marinus Duran, Michael K. Gibson, editors. Laboratory Guide to the Methods in Biochemical Genetics. S.l.: Springer; 2008. p. 483-495, ISBN 9783540766971
  • Kuijk Loes M., Beekman Jeffrey M., Koster Janet, Waterham Hans R., Frenkel Joost, Coffer Paul J. HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation Blood 2008;112 (9):3563-3573 [PubMed]
  • Topaloglu Rezan, Ayaz Nuray Aktay, Waterham Hans R., Yuece Aysel, Gumruk Fatma, Sanal Oezden Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up Clinical rheumatology 2008;27 (10):1317-1320 [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)
  • 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]
  • Konstantinidou Anastasia, Karadimas Charalampos, Waterham Hans R., Superti-Furga Andrea, Kaminopetros Petros, Grigoriadou Maria, Kokotas Haris, Agrogiannis George, Giannoulia-Karantana Aglaia, Patsouris Efstratios, Petersen Michael B. Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia Prenatal diagnosis 2008;28 (4):309-312 [PubMed]
  • Kuijk Loes M., Mandey Saskia H., Schellens Ingrid, Waterham Hans R., Rijkers Ger T., Coffer Paul J., Frenkel Joost Statin synergizes with LPS to induce IL-1 beta release by THP-1 cells through activation of caspase-1 Molecular immunology 2008;45 (8):2158-2165 [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]
  • Milhavet Florian, Cuisset Laurence, Hoffman Hal M., Slim Rima, El-Shanti Hatem, Aksentijevich Ivona, Lesage Suzanne, Waterham Hans, Wise Carol, Sarrauste de Menthiere Cyril, Touitou Isabelle The infevers autoinflammatory mutation online registry: update with new genes and functions Human mutation 2008;29 (6):803-808 [PubMed]

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]
  • 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]
  • Demirkaya Erkan, Caglar M. Kazim, Waterham Hans R., Topaloglu Rezan, Ozen Seza A patient with hyper-IgD syndrome responding to anti-TNF treatment Clinical rheumatology 2007;26 (10):1757-1759 [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]
  • Nevyjel Marco, Pontillo Alessandra, Calligaris Lorenzo, Tommasini Alberto, D'Osualdo Andrea, Waterham Hans R., Granzotto Marilena, Crovella Sergio, Barbi Egidio, Ventura Alessandro Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency Pediatrics 2007;119 (2):e523-e527 [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
  • 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]
  • 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
  • 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]
  • 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

  • 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]
  • Mandey Saskia H. L., Kuijk Loes M., Frenkel Joost, Waterham Hans R. A role for geranylgeranylation in interleukin-1beta secretion Arthritis and rheumatism 2006;54 (11):3690-3695 [PubMed]
  • Wanders Ronald J. A., Waterham Hans R. Biochemistry of mammalian peroxisomes revisited Annual review of biochemistry 2006;75:295-332 [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]
  • Waterham Hans R. Defects of cholesterol biosynthesis FEBS letters 2006;580 (23):5442-5449 [PubMed]
  • Waterham H. R., Clayton P. T. Disorders of cholesterol synthesisin: J. Fernandes, J. M. Saudubray, G. van den Berghe, editors. Inborn metabolic diseases. Diagnosis and treatment. S.l.: s.n.; 2006. p. 413-419
  • 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]
  • 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]
  • Köppel S., Gottschalk J., Hoffmann G. F., Waterham H. R., Blobel H., Kölker S. Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis? Neurology 2006;67 (8):1519 [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]
  • Mandey Saskia H. L., Schneiders Marit S., Koster Janet, Waterham Hans R. Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency Human mutation 2006;27 (8):796-802 [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]
  • 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]
  • 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]
  • Derks Terry G. J., Reijngoud Dirk-Jan, Waterham Hans R., Gerver Willem-Jan M., van den Berg Maarten P., Sauer Pieter J. J., Smit G. Peter A. The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome Journal of pediatrics 2006;148 (5):665-670 [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]

2005

  • 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]
  • 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]
  • 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.)
  • 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]
  • 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]
  • 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]
  • Derks Terry G. J., Duran Marinus, Waterham Hans R., Reijngoud Dirk-Jan, ten Kate Leo P., Smit G. Peter A. The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study European journal of human genetics 2005;13 (8):947-952 [PubMed]

2004

  • Frenkel J., Waterham H. R. Auto-inflammatoire ziektebeelden: onverklaarbare koorts nader verklaard Nederlands tijdschrift voor klinische chemie en laboratoriumgeneeskunde 2004;29:156-165
  • 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]
  • 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]
  • 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
  • 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]
  • 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]
  • Touitou Isabelle, Lesage Suzanne, McDermott Michael, Cuisset Laurence, Hoffman Hal, Dode Catherine, Shoham Nitza, Aganna Ebun, Hugot Jean-Pierre, Wise Carol, Waterham Hans, Pugnere Denis, Demaille Jacques, Sarrauste de Menthiere Cyril Infevers: An evolving mutation database for auto-inflammatory syndromes Human mutation 2004;24 (3):194-198 [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]
  • 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]
  • 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]
  • 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]
  • 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.)
  • 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]
  • Bosch A. M., Waterham H. R., Bakker H. D. Van gen naar ziekte; galactosemie en galactose-I-fosfaaturidyltransferasedeficiëntie Nederlands tijdschrift voor geneeskunde 2004;148 (2):80-81 [PubMed]

2003

  • 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]
  • 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]
  • Oosterwijk J. C., Mansour S., van Noort G., Waterham H. R., Hall C. M., Hennekam R. C. M. Congenital abnormalities reported in Pelger-Huet homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes Journal of medical genetics 2003;40 (12):937-941 [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
  • Bosch A. M., Waterham H. R., Duran M., Bakker H. D. Een premature tweeling met icterus, stollingsstoornissen en een E. coli-sepsis Nederlands tijdschrift voor klinische chemie en laboratoriumgeneeskunde 2003;28:341-343
  • 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]
  • 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]
  • Houten S. M., Frenkel J., Waterham H. R. Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation Cellular and molecular life sciences 2003;60 (6):1118-1134 [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]
  • Rozendaal Lieke, del Canho Harry, Waterham Hans R., Hennekam Raoul C. M. Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers Clinical dysmorphology 2003;12 (1):9-13 [PubMed]
  • 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]
  • 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]
  • 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]

2002

  • 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]
  • 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]
  • Arkwright P. D., McDermott M. F., Houten S. M., Frenkel J., Waterham H. R., Aganna E., Hammond L. J., Mirakian R. M., Tomlin P. I., Vijaydurai P. I., Cant A. J. Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept Clinical and experimental immunology 2002;130 (3):484-488 [PubMed]
  • 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]
  • Waterham H. R. Inherited disorders of cholesterol biosynthesis Clinical genetics 2002;61 (6):393-403 [PubMed]
  • 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]
  • 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.)
  • van Kuilenburg André B. P., Dobritzsch Doreen, Meinsma Rutger, Haasjes Janet, Waterham Hans R., Nowaczyk Malgorzata J. M., Maropoulos George D., Hein Guido, Kalhoff Hermann, Kirk Jean M., Baaske Holger, Aukett Anne, Duley John A., Ward Kate P., Lindqvist Ylva, van Gennip Albert H. Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure Biochemical journal 2002;364 (Part 1):157-163 [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]
  • 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]
  • 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]
  • 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]
  • 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]
  • van Kuilenburg A. B., Muller E. W., Haasjes J., Meinsma R., Zoetekouw L., Waterham H. R., Baas F., Richel D. J., van Gennip A. H. Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency Clinical cancer research 2001;7 (5):1149-1153 [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]
  • 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]
  • Houten S. M., Waterham H. R. Nonorthologous gene displacement of phosphomevalonate kinase Molecular genetics and metabolism 2001;72 (3):273-276 [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
  • 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]

2000

  • 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]
  • 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]
  • Differential induction of two p24delta putative cargo receptors upon activation of a prohormone-producing cell Molecular biology of the cell 2000;11 (1):131-140 [PubMed]
  • Dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil associated toxicity Advances in experimental medicine and biology 2000;486:251-255 [PubMed]
  • Dihydropyrimidine dehydrogenase (DPD) deficiency: novel mutations in the DPD gene Advances in experimental medicine and biology 2000;486:247-250 [PubMed]
  • 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]
  • Identificatie van het gen voor het hyper-IgD-syndroom: een schoolvoorbeeld van moderne genetica Nederlands tijdschrift voor geneeskunde 2000;144 (17):782-785 [PubMed]
  • Identification of a cDNA encoding an isoform of human CTP synthetase BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION 2000;1492 (2-3):548-552 [PubMed]
  • 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]
  • Isoforms of human CTP synthetase Advances in experimental medicine and biology 2000;486:257-261 [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]
  • Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome Journal of inherited metabolic disease 2000;23 (4):363-366 [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]
  • 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]
  • Subcellular localization and physiological role of alpha-methylacyl-CoA racemase Journal of lipid research 2000;41 (11):1890-1896 [PubMed]

1999

  • 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]
  • Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency Human genetics 1999;105 (1-2):157-161 [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]
  • Positive selection of novel peroxisome biogenesis-defective mutants of the yeast Pichia pastoris Genetics 1999;151 (4):1379-1391 [PubMed]
  • Unexpected molecular findings in 2 previously described brothers with Smith-Lemli-Opitz syndrome Genetic counseling (Geneva, Switzerland) 1999;10 (4):403 [PubMed]

1998

  • Classical genetic manipulation Methods in molecular biology (Clifton, N.J.) 1998;103:17-26 [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]

1997

  • Functional characterization of mitochondrial carnitine palmitoyltransferases I and II expressed in the yeast Pichia pastoris Biochemistry 1997;36 (17):5285-5292 [PubMed]
  • Waterham H. R., Digan M. E., Koutz P. J., Lair S. V., Cregg J. M. Isolation of the Pichia pastoris glyceraldehyde-3-phosphate dehydrogenase gene and regulation and use of its promoter Gene 1997;186 (1):37-44 [PubMed]
  • Peroxisomal targeting, import, and assembly of alcohol oxidase in Pichia pastoris Journal of cell biology 1997;139 (6):1419-1431 [PubMed]
  • Peroxisome biogenesis BioEssays 1997;19 (1):57-66 [PubMed]

1996

  • Foreign gene expression in Hansenula polymorpha. A system for the synthesis of small functional peptides Applied microbiology and biotechnology 1996;45 (1-2):72-79 [PubMed]
  • The Pichia pastoris PER6 gene encodes the yeast homologue of human PAF-1 Annals of the New York Academy of Sciences 1996;804:773-774 [PubMed]
  • The Pichia pastoris PER6 gene product is a peroxisomal integral membrane protein essential for peroxisome biogenesis and has sequence similarity to the Zellweger syndrome protein PAF-1 Molecular and cellular biology 1996;16 (5):2527-2536 [PubMed]

1995

  • Characterization of peroxisome-deficient mutants of Hansenula polymorpha Current genetics 1995;28 (3):248-257 [PubMed]
  • The Hansenula polymorpha PER3 gene is essential for the import of PTS1 proteins into the peroxisomal matrix Journal of biological chemistry 1995;270 (29):17229-17236 [PubMed]
  • Tan X., Waterham H. R., Veenhuis M., Cregg J. M. The Hansenula polymorpha PER8 gene encodes a novel peroxisomal integral membrane protein involved in proliferation Journal of cell biology 1995;128 (3):307-319 [PubMed]

1994

  • Waterham H. R., Titorenko V. I., Haima P., Cregg J. M., Harder W., Veenhuis M. The Hansenula polymorpha PER1 gene is essential for peroxisome biogenesis and encodes a peroxisomal matrix protein with both carboxy- and amino-terminal targeting signals Journal of cell biology 1994;127 (3):737-749 [PubMed]

1993

  • Expression and targeting of a 47 kDa integral peroxisomal membrane protein of Candida boidinii in wild type and a peroxisome-deficient mutant of Hansenula polymorpha FEBS letters 1993;315 (3):211-216 [PubMed]
  • Titorenko V. I., Waterham H. R., Cregg J. M., Harder W., Veenhuis M. Peroxisome biogenesis in the yeast Hansenula polymorpha is controlled by a complex set of interacting gene products Proceedings of the National Academy of Sciences of the United States of America 1993;90 (16):7470-7474 [PubMed]
  • Waterham H. R., Titorenko V. I., Swaving G. J., Harder W., Veenhuis M. Peroxisomes in the methylotrophic yeast Hansenula polymorpha do not necessarily derive from pre-existing organelles EMBO journal 1993;12 (12):4785-4794 [PubMed]

1992

  • Waterham H. R., Keizer-Gunnink I., Goodman J. M., Harder W., Veenhuis M. Development of multipurpose peroxisomes in Candida boidinii grown in oleic acid-methanol limited continuous cultures Journal of bacteriology 1992;174 (12):4057-4063 [PubMed]
  • Peroxisome biogenesis in Hansenula polymorpha: different mutations in genes, essential for peroxisome biogenesis, cause different peroxisomal mutant phenotypes FEMS microbiology letters 1992;74 (2-3):143-148 [PubMed]

1990

  • Immunocytochemical demonstration of the peroxisomal ATPase of yeasts Yeast (Chichester, England) 1990;6 (1):45-51 [PubMed]
  • Waterham H. R., Keizer-Gunnink I., Goodman J. M., Harder W., Veenhuis M. Immunocytochemical evidence for the acidic nature of peroxisomes in methylotrophic yeasts FEBS letters 1990;262 (1):17-19 [PubMed]
  • Permeability properties of peroxisomal membranes from yeasts Archives of microbiology 1990;153 (5):490-495 [PubMed]
  • Sulter G. J., Waterham H. R., Goodman J. M., Veenhuis M. Proliferation and metabolic significance of peroxisomes in Candida boidinii during growth on D-alanine or oleic acid as the sole carbon source Archives of microbiology 1990;153 (5):485-489 [PubMed]

1989

  • Cloning and sequencing of the peroxisomal amine oxidase gene from Hansenula polymorpha BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION 1989;1008 (2):157-167 [PubMed]

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