S. Ferdinandusse PhD publications

2021

• Simon Mariella T., Eftekharian Shaya S., Ferdinandusse Sacha, Tang Sha, Naseri Take, Reupena Muagututi'a Sefuiva, McGarvey Stephen T., Minster Ryan L., Weeks Daniel E., Nguyen Daniel D., Lee Sansan, Ellsworth Katarzyna A., Vaz Frédéric M., Dimmock David, Pitt James, Abdenur Jose E. ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder American journal of medical genetics. Part A 2021;185 (1):157-167 [PubMed]
• Verkerk Arie O., Knottnerus Suzan J. G., Portero Vincent, Bleeker Jeannette C., Ferdinandusse Sacha, Guan Kaomei, IJlst Lodewijk, Visser Gepke, Wanders Ronald J. A., Wijburg Frits A., Bezzina Connie R., Mengarelli Isabella, Houtkooper Riekelt H. Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation Frontiers in pharmacology 2021;11

2020

• Kim Joon-Tae, Won So Yeon, Kang Kyung Wook, Kim Sang-Hoon, Park Man-Seok, Choi Kang-Ho, Nam Tai-Seung, Denis Simone W., Ferdinandusse Sacha, Lee Ji Eun, Choi Seok-Yong, Kim Myeong-Kyu ACOX3 Dysfunction as a Potential Cause of Recurrent Spontaneous Vasospasm of Internal Carotid Artery TRANSLATIONAL STROKE RESEARCH 2020;11 (5):1041-1051 [PubMed]
• Ferdinandusse Sacha, McWalter Kirsty, te Brinke Heleen, IJlst Lodewijk, Mooijer Petra M., Ruiter Jos P. N., van Lint Alida E. M., Pras-Raves Mia, Wever Eric, Millan Francisca, Guillen Sacoto Maria J., Begtrup Amber, Tarnopolsky Mark, Brady Lauren, Ladda Roger L., Sell Susan L., Nowak Catherine B., Douglas Jessica, Tian Cuixia, Ulm Elizabeth, Perlman Seth, Drack Arlene V., Chong Karen, Martin Nicole, Brault Jennifer, Brokamp Elly, Toro Camilo, Gahl William A., Macnamara Ellen F., Wolfe Lynne, Alejandro Mercedes E., Azamian Mahshid S., Bacino Carlos A., Balasubramanyam Ashok, Burrage Lindsay C., Chao Hsiao-Tuan, Clark Gary D., Craigen William J., Dai Hongzheng, Dhar Shweta U., Emrick Lisa T., Goldman Alica M., Hanchard Neil A., Jamal Fariha, Karaviti Lefkothea, Zwijnenburg Petra J. G., van Kampen Antoine H. C., Wanders Ronald J. A., Waterham Hans R., Vaz Frédéric M. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids Genetics in medicine 2020 [PubMed]
• D'Gama Alissa M., Brucker William J., Zhang Tian, Gubbels Cynthia S., Ferdinandusse Sacha, Shi Jiahai, Grant Patricia Ellen, VanNoy Grace, Genetti Casie A., Juusola Jane, Yu Timothy W., Kritzer Amy, Agrawal Pankaj B. A phenotypically severe, biochemically “silent” case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing American journal of medical genetics. Part A 2020;182 (4):780-784 [PubMed]
• Jaspers Yorrick R. J., Ferdinandusse Sacha, Dijkstra Inge M. E., Barendsen Rinse Willem, van Lenthe Henk, Kulik Wim, Engelen Marc, Goorden Susan M. I., Vaz Frédéric M., Kemp Stephan Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders Frontiers in cell and developmental biology 2020;8 [PubMed]
• Welsink-Karssies Mendy M., Ferdinandusse Sacha, Geurtsen Gert J., Hollak Carolina E. M., Huidekoper Hidde H., Janssen Mirian C. H., Langendonk Janneke G., van der Lee Hanneke H., O'Flaherty Roisin, Oostrom Kim J., Roosendaal Stefan D., Rubio-Gozalbo M. Estela, Saldova Radka, Treacy Eileen P., Vaz Fred M., de Vries Maaike C., Engelen Marc, Bosch Antonette M. Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers Brain Communications 2020;2 (1) [PubMed]
• Staps Pippa, Rizzo William B., Vaz Frédéric M., Bugiani Marianna, Giera Martin, Heijs Bram, van Kampen Antoine H. C., Pras-Raves Mia L., Breur Marjolein, Groen Annemieke, Ferdinandusse Sacha, van der Graaf Marinette, van Goethem Gert, Lammens Martin, Wevers Ron A., Willemsen Michèl A. A. P. Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome Journal of inherited metabolic disease 2020;43 (6):1265-1278 [PubMed]
• Knottnerus Suzan J. G., Mengarelli Isabella, Wüst Rob C. I., Baartscheer Antonius, Bleeker Jeannette C., Coronel Ruben, Ferdinandusse Sacha, Guan Kaomei, Ijlst Lodewijk, Li Wener, Luo Xiaojing, Portero Vincent M., Ulbricht Ying, Visser Gepke, Wanders Ronald J. A., Wijburg Frits A., Verkerk Arie O., Houtkooper Riekelt H., Bezzina Connie R. Electrophysiological abnormalities in VLCAD deficient hiPSC-cardiomyocytes can be improved by lowering accumulation of fatty acid oxidation intermediates International journal of molecular sciences 2020;21 (7) [PubMed]
• Knottnerus Suzan J. G., van Harskamp Dewi, Schierbeek Henk, Bleeker Jeannette C., Crefcoeur Loek L., Ferdinandusse Sacha, van Goudoever Johannes B., Houtkooper Riekelt H., IJlst Lodewijk, Langeveld Mirjam, Wanders Ronald J. A., Vaz Frédéric M., Wijburg Frits A., Visser Gepke Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer Clinical nutrition (Edinburgh, Scotland) 2020 [PubMed]
• Wanders Ronald J. A., Vaz Frédéric M., Waterham Hans R., Ferdinandusse Sacha Fatty Acid Oxidation in Peroxisomes: Enzymology, Metabolic Crosstalk with Other Organelles and Peroxisomal Disorders Advances in experimental medicine and biology 2020;1299:55-70 [PubMed]
• 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]
• Abdenur J. E., Sowa M., Simon M., Steenari M., Skaar J., Eftekharian S., Chang R., Ferdinandusse S., Pitt J. Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet Molecular genetics and metabolism reports 2020;24 [PubMed]
• Lipiński Patryk, Stawiński Piotr, Rydzanicz Małgorzata, Wypchło Maria, Płoski Rafał, Stradomska Teresa Joanna, Jurkiewicz Elżbieta, Ferdinandusse Sacha, Wanders Ronald J. A., Vaz Frederic M., Tylki-Szymańska Anna Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants Journal of applied genetics 2020;61 (1):87-91 [PubMed]
• Wanders Ronald J. A., Visser Gepke, Ferdinandusse Sacha, Vaz Frédéric M., Houtkooper Riekelt H. Mitochondrial fatty acid oxidation disorders: Laboratory diagnosis, pathogenesis, and the complicated route to treatment Journal of Lipid and Atherosclerosis 2020;9 (3):313-333 [PubMed]
• Passmore Josiah B., Carmichael Ruth E., Schrader Tina A., Godinho Luis F., Ferdinandusse Sacha, Lismont Celien, Wang Yunhong, Hacker Christian, Islinger Markus, Fransen Marc, Richards David M., Freisinger Peter, Schrader Michael Mitochondrial fission factor (MFF) is a critical regulator of peroxisome maturation BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH 2020;1867 (7) [PubMed]
• Crefcoeur Loek L., de Sain-van der Velden Monique G. M., Ferdinandusse Sacha, Langeveld Mirjam, Maase Rose, Vaz Frédéric M., Visser Gepke, Wanders Ronald J. A., Wijburg Frits A., Verschoof-Puite Rendelien K., Schielen Peter C. J. I. Neonatal carnitine concentrations in relation to gestational age and weight JIMD reports 2020;56 (1):95-104 [PubMed]
• Bleeker Jeannette C., Visser Gepke, Clarke Kieran, Ferdinandusse Sacha, de Haan Ferdinand H., Houtkooper Riekelt H., IJlst Lodewijk, Kok Irene L., Langeveld Mirjam, van der Pol W. Ludo, de Sain-van der Velden Monique G. M., Sibeijn-Kuiper Anita, Takken Tim, Wanders Ronald J. A., van Weeghel Michel, Wijburg Frits A., van der Woude Luc H., Wüst Rob C. I., Cox Pete J., Jeneson Jeroen A. L. Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency Journal of inherited metabolic disease 2020;43 (4):787-799 [PubMed]
• Tangeraas Trine, Sæves Ingjerd, Klingenberg Claus, Jørgensen Jens, Kristensen Erle, Gunnarsdottir Gunnþórunn, Hansen Eirik Vangsøy, Strand Janne, Lundman Emma, Ferdinandusse Sacha, Salvador Cathrin Lytomt, Woldseth Berit, Bliksrud Yngve T., Sagredo Carlos, Olsen Øyvind E., Berge Mona C., Trømborg Anette Kjoshagen, Ziegler Anders, Zhang Jin Hui, Sørgjerd Linda Karlsen, Ytre-Arne Mari, Hogner Silje, Løvoll Siv M., Kløvstad Olavsen Mette R., Navarrete Dionne, Gaup Hege J., Lilje Rina, Zetterström Rolf H., Stray-Pedersen Asbjørg, Rootwelt Terje, Rinaldo Piero, Rowe Alexander D., Pettersen Rolf D. Performance of expanded newborn screening in norway supported by post-analytical bioinformatics tools and rapid second-tier DNA analyses International Journal of Neonatal Screening 2020;6 (3)
• Knottnerus Suzan J. G., Pras-Raves Mia L., van der Ham Maria, Ferdinandusse Sacha, Houtkooper Riekelt H., Schielen Peter C. J. I., Visser Gepke, Wijburg Frits A., de Sain-van der Velden Monique G. M. Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2020;1866 (6) [PubMed]
• Staps Pippa, van Gaalen Judith, van Domburg Peter, Steijlen Peter M., Ferdinandusse Sacha, den Heijer Tom, Seyger Marieke M. B., Theelen Thomas, Willemsen Michèl A. A. P. Sjögren-larsson syndrome: The mild end of the phenotypic spectrum JIMD reports 2020;53 (1):61-70 [PubMed]
• Knottnerus Suzan J. G., Bleeker Jeannette C., Ferdinandusse Sacha, Houtkooper Riekelt H., Langeveld Mirjam, Nederveen Aart J., Strijkers Gustav J., Visser Gepke, Wanders Ronald J. A., Wijburg Frits A., Boekholdt S. Matthijs, Bakermans Adrianus J. Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study Journal of inherited metabolic disease 2020;43 (5):969-980 [PubMed]
• Welsink-Karssies M. M., van Weeghel M., Hollak C. E. M., Elfrink H. L., Janssen M. C. H., Lai K., Langendonk J. G., Oussoren E., Ruiter J. P. N., Treacy E. P., de Vries M., Ferdinandusse S., Bosch A. M. The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes Molecular genetics and metabolism 2020;129 (3):171-176 [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]
• Carlston Colleen M., Ferdinandusse Sacha, Hobert Judith A., Mao Rong, Longo Nicola Extrapolation of variant phase in mitochondrial short-chain enoyl-CoA hydratase (ECHS1) deficiencyin: JIMD Reports. Springer; 2019. p. 103-109
• 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]
• Vaz Frédéric M., McDermott John H., Alders Mariëlle, Wortmann Saskia B., Kölker Stefan, Pras-Raves Mia L., Vervaart Martin A. T., van Lenthe Henk, Luyf Angela C. M., Elfrink Hyung L., Metcalfe Kay, Cuvertino Sara, Clayton Peter E., Yarwood Rebecca, Lowe Martin P., Lovell Simon, Rogers Richard C., van Kampen Antoine H. C., Ruiter Jos P. N., Wanders Ronald J. A., Ferdinandusse Sacha, van Weeghel Michel, Engelen Marc, Banka Siddharth Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia Brain 2019;142 (11):3382-3397 [PubMed]
• van Rijt Willemijn J., Ferdinandusse Sacha, Giannopoulos Panagiotis, Ruiter Jos P. N., de Boer Lonneke, Bosch Annet M., Huidekoper Hidde H., Rubio-Gozalbo M. Estela, Visser Gepke, Williams Monique, Wanders Ronald J. A., Derks Terry G. J. Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study Journal of inherited metabolic disease 2019;42 (5):878-889 [PubMed]
• 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]
• Welsink-Karssies Mendy M., van Harskamp Dewi, Ferdinandusse Sacha, Hollak Carla E. M., Huidekoper Hidde H., Janssen Mirian C. H., Kemper E. Marleen, Langendonk Janneke G., Rubio-Gozalbo M. Estela, de Vries Maaike C., Wijburg Frits A., Schierbeek Henk, Bosch Annet M. The 1-13C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes Journal of inherited metabolic disease 2019 [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]
• Chatzispyrou Iliana A., Guerrero-Castillo Sergio, Held Ntsiki M., Ruiter Jos P. N., Denis Simone W., IJlst Lodewijk, Wanders Ronald J., van Weeghel Michel, Ferdinandusse Sacha, Vaz Frédéric M., Brandt Ulrich, Houtkooper Riekelt H. Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2018;1864 (11):3650-3658 [PubMed]
• Wojcik Monica H., Wierenga Klaas J., Rodan Lance H., Sahai Inderneel, Ferdinandusse Sacha, Genetti Casie A., Towne Meghan C., Peake Roy W. A., James Philip M., Beggs Alan H., Brownstein Catherine A., Berry Gerard T., Agrawal Pankaj B. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals JIMD reports 2018;39:45-54 [PubMed]
• van Dijk Tessa, Ferdinandusse Sacha, Ruiter Jos P. N., Alders Mariëlle, Mathijssen Inge B., Parboosingh Jillian S., Innes A. Micheil, Meijers-Heijboer Hanne, Poll-The Bwee Tien, Bernier Francois P., Wanders Ronald J. A., Lamont Ryan E., Baas Frank Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis European journal of human genetics 2018;26 (12):1752-1758 [PubMed]
• Fitzsimons Patricia E., Alston Charlotte L., Bonnen Penelope E., Hughes Joanne, Crushell Ellen, Geraghty Michael T., Tetreault Martine, O'Reilly Peter, Twomey Eilish, Sheikh Yusra, Walsh Richard, Waterham Hans R., Ferdinandusse Sacha, Wanders Ronald J. A., Taylor Robert W., Pitt James J., Mayne Philip D. Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency American journal of medical genetics. Part A 2018;176 (5):1115-1127 [PubMed]
• Pomerantz Daniel J., Ferdinandusse Sacha, Cogan Joy, Cooper David N., Reimschisel Tyler, Robertson Amy, Bican Anna, McGregor Tracy, Gauthier Jackie, Millington David S., Andrae Jaime L. W., Tschannen Michael R., Helbling Daniel C., Demos Wendy M., Denis Simone, Wanders Ronald J. A., Newman John N., Hamid Rizwan, Phillips John A. Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant American journal of medical genetics. Part A 2018;176 (3):692-698 [PubMed]
• Knottnerus Suzan J. G., Bleeker Jeannette C., Wüst Rob C. I., Ferdinandusse Sacha, IJlst Lodewijk, Wijburg Frits A., Wanders Ronald J. A., Visser Gepke, Houtkooper Riekelt H. Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle Reviews in endocrine & metabolic disorders 2018;19 (1):93-106 [PubMed]
• Herzog Katharina, Pras-Raves Mia L., Ferdinandusse Sacha, Vervaart Martin A. T., Luyf Angela C. M., van Kampen Antoine H. C., Wanders Ronald J. A., Waterham Hans R., Vaz Frédéric M. Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics Journal of inherited metabolic disease 2018;41 (3):479–487 [PubMed]
• Shinde Abhijit Babaji, Baboota Ritesh Kumar, Denis Simone, Loizides-Mangold Ursula, Peeters Annelies, Espeel Marc, Malheiro Ana Rita, Riezman Howard, Vinckier Stefan, Vaz Frédéric M., Brites Pedro, Ferdinandusse Sacha, van Veldhoven Paul P., Baes Myriam Mitochondrial disruption in peroxisome deficient cells is hepatocyte selective but is not mediated by common hepatic peroxisomal metabolites Mitochondrion 2018;39:51-59 [PubMed]
• Huffnagel Irene C., Redeker Egbert J. W., Reneman Liesbeth, Vaz Frédéric M., Ferdinandusse Sacha, Poll-The Bwee Tien Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up JIMD reports 2018;39:83-87 [PubMed]
• Wanders Ronald J. A., Waterham Hans R., Ferdinandusse Sacha Peroxisomes and their central role in metabolic interaction networks in humansin: Subcellular Biochemistry. Springer New York; 2018. p. 345-365
• Herzog Katharina, Pras-Raves Mia L., Ferdinandusse Sacha, Vervaart Martin A. T., Luyf Angela C. M., van Kampen Antoine H. C., Wanders Ronald J. A., Waterham Hans R., Vaz Frédéric M. Plasma lipidomics as a diagnostic tool for peroxisomal disorders Journal of inherited metabolic disease 2018;41 (3):489–498 [PubMed]
• van Weeghel Michel, Welling Lindsey, Treacy Eileen P., Wanders Ronald J. A., Ferdinandusse Sacha, Bosch Annet M. Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research Orphanet journal of rare diseases 2018;13 (1) [PubMed]

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]
• 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]
• Vaz Frédéric M., Ferdinandusse Sacha Bile acid analysis in human disorders of bile acid biosynthesis Molecular aspects of medicine 2017;56:10-24 [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]
• Dias Costa Filipa, Ferdinandusse Sacha, Pinto Carla, Dias Andrea, Keldermans Liesbeth, Quelhas Dulce, Matthijs Gert, Mooijer Petra A., Diogo Luísa, Jaeken Jaak, Garcia Paula Galactose Epimerase Deficiency: Expanding the Phenotype JIMD reports 2017;37:19-25 [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]
• Blomqvist Maria, Ahlberg Karin, Lindgren Julia, Ferdinandusse Sacha, Asin-Cayuela Jorge Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report Journal of medical case reports 2017;11 (1):218 [PubMed]
• Bedoyan Jirair K., Yang Samuel P., Ferdinandusse Sacha, Jack Rhona M., Miron Alexander, Grahame George, DeBrosse Suzanne D., Hoppel Charles L., Kerr Douglas S., Wanders Ronald J. A. Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency Molecular genetics and metabolism 2017;120 (4):342-349 [PubMed]
• Oud Machteld M., Tuijnenburg Paul, Hempel Maja, van Vlies Naomi, Ren Zemin, Ferdinandusse Sacha, Jansen Machiel H., Santer René, Johannsen Jessika, Bacchelli Chiara, Alders Marielle, Li Rui, Davies Rosalind, Dupuis Lucie, Cale Catherine M., Wanders Ronald J. A., Pals Steven T., Ocaka Louise, James Chela, Müller Ingo, Lehmberg Kai, Strom Tim, Engels Hartmut, Williams Hywel J., Beales Phil, Roepman Ronald, Dias Patricia, Brunner Han G., Cobben Jan-Maarten, Hall Christine, Hartley Taila, Le Quesne Stabej Polona, Mendoza-Londono Roberto, Davies E. Graham, de Sousa Sérgio B., Lessel Davor, Arts Heleen H., Kuijpers Taco W. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome American journal of human genetics 2017;100 (2):281-296 [PubMed]
• Maxit C., Denzler I., Marchione D., Agosta G., Koster J., Wanders R. J. A., Ferdinandusse S., Waterham H. R. Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder JIMD reports 2017;34:71-75 [PubMed]
• 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]
• Riemersma Moniek, Hazebroek Mark R., Helderman-van den Enden Appolonia T. J. M., Salomons Gajja S., Ferdinandusse Sacha, Brouwers Martijn C. G. J., van der Ploeg Liesbeth, Heymans Stephane, Glatz Jan F. C., van den Wijngaard Arthur, Krapels Ingrid P. C., Bierau Jörgen, Brunner Han G. Propionic acidemia as a cause of adult-onset dilated cardiomyopathy European journal of human genetics 2017;25 (11):1195-1201 [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]
• Lines Matthew A., Ito Yoko, Kernohan Kristin D., Mears Wendy, Hurteau-Miller Julie, Venkateswaran Sunita, Ward Leanne, Khatchadourian Karine, McClintock Jeff, Bhola Priya, Campeau Philippe M., Boycott Kym M., Michaud Jean, van Kuilenburg André Bp, Ferdinandusse Sacha, Dyment David A. Yunis-Varón syndrome caused by biallelic VAC14 mutations European journal of human genetics 2017;25 (9):1049-1054 [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]
• Schottmann Gudrun, Sarpong Akosua, Lorenz Carmen, Weinhold Natalie, Gill Esther, Teschner Lisa, Ferdinandusse Sacha, Wanders Ronald J. A., Prigione Alessandro, Schuelke Markus A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene Movement disorders 2016;31 (11):1733-1739 [PubMed]
• 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]
• Boemer F., Deberg M., Schoos R., Caberg J.-H., Gaillez S., Dugauquier C., Delbecque K., François A., Maton P., Demonceau N., Senterre G., Ferdinandusse S., Debray F.-G. Diagnostic pitfall in antenatal manifestations of CPT II deficiency Clinical genetics 2016;89 (2):193-197 [PubMed]
• Renaud Mathilde, Guissart Claire, Mallaret Martial, Ferdinandusse Sacha, Cheillan David, Drouot Nathalie, Muller Jean, Claustres Mireille, Tranchant Christine, Anheim Mathieu, Koenig Michel Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia Journal of neurology 2016;263 (8):1552-1558 [PubMed]
• Guissart Claire, Drouot Nathalie, Oncel Ibrahim, Leheup Bruno, Gershoni-Barush Ruth, Muller Jean, Ferdinandusse Sacha, Larrieu Lise, Anheim Mathieu, Arslan Elif Acar, Claustres Mireille, Tranchant Christine, Topaloglu Haluk, Koenig Michel Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2) European journal of human genetics 2016;24 (8):1154-1159 [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]
• Wanders Ronald J. A., Waterham Hans R., Ferdinandusse Sacha Metabolic interplay between peroxisomes and other subcellular organelles including mitochondria and the endoplasmic reticulum Frontiers in cell and developmental biology 2016;3 (JAN):83 [PubMed]
• Horn Morten A., Mikaelsen Karin B. M., Ferdinandusse Sacha, Jørum Ellen, Mellgren Svein I., Retterstøl Lars, Wanders Ronald J. A., Tallaksen Chantal M. E. Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report Clinical case reports 2016;4 (2):177-181 [PubMed]
• Djouadi Fatima, Habarou Florence, Le Bachelier Carole, Ferdinandusse Sacha, Schlemmer Dimitri, Benoist Jean François, Boutron Audrey, Andresen Brage S., Visser Gepke, de Lonlay Pascale, Olpin Simon, Fukao Toshiyuki, Yamaguchi Seiji, Strauss Arnold W., Wanders Ronald J. A., Bastin Jean Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate Journal of inherited metabolic disease 2016;39 (1):47-58 [PubMed]
• Bala P., Ferdinandusse S., Olpin S. E., Chetcuti P., Morris A. A. M. Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency JIMD reports 2016;27:11-15 [PubMed]
• Ferdinandusse Sacha, Ebberink Merel S., Vaz Frédéric M., Waterham Hans R., Wanders Ronald J. A. The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders Journal of inherited metabolic disease 2016;39 (4):531-543 [PubMed]
• 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]
• 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]
• 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]
• 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]
• Peters Heidi, Ferdinandusse Sacha, Ruiter Jos P., Wanders Ronald J. A., Boneh Avihu, Pitt James Metabolite studies in HIBCH and ECHS1 defects: Implications for screening Molecular genetics and metabolism 2015;115 (4):168-173 [PubMed]
• van Hasselt Peter M., Ferdinandusse Sacha, van Haaften Gijs Monocarboxylate Transporter 1 Deficiency and Ketone Utilization Reply New England journal of medicine 2015;372 (6):578-579 [PubMed]
• Stiles Ashlee R., Ferdinandusse Sacha, Besse Arnaud, Appadurai Vivek, Leydiker Karen B., Cambray-Forker E. J., Bonnen Penelope E., Abdenur Jose E. Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease Molecular genetics and metabolism 2015;115 (4):161-167 [PubMed]
• Klouwer Femke C. C., Berendse Kevin, Ferdinandusse Sacha, Wanders Ronald J. A., Engelen Marc, Poll-The Bwee Tien Zellweger spectrum disorders: clinical overview and management approach Orphanet journal of rare diseases 2015;10:151 [PubMed]

2014

• 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]
• van Hasselt Peter M., Ferdinandusse Sacha, Monroe Glen R., Ruiter Jos P. N., Turkenburg Marjolein, Geerlings Maartje J., Duran Karen, Harakalova Magdalena, van der Zwaag Bert, Monavari Ardeshir A., Okur Ilyas, Sharrard Mark J., Cleary Maureen, O'Connell Nuala, Walker Valerie, Rubio-Gozalbo M. Estela, de Vries Maaike C., Visser Gepke, Houwen Roderick H. J., van der Smagt Jasper J., Verhoeven-Duif Nanda M., Wanders Ronald J. A., van Haaften Gijs Monocarboxylate transporter 1 deficiency and ketone utilization New England journal of medicine 2014;371 (20):1900-1907 [PubMed]
• Lines Matthew A., Jobling Rebekah, Brady Lauren, Marshall Christian R., Scherer Stephen W., Rodriguez Amadeo R., Lee Liesly, Lang Anthony E., Mestre Tiago A., Wanders Ronald J. A., Ferdinandusse Sacha, Tarnopolsky Mark A. Peroxisomal D-bifunctional protein deficiency Three adults diagnosed by whole-exome sequencing Neurology 2014;82 (11):963-968 [PubMed]
• Wanders 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
• Jank Johanna M., Maier Esther M., Reiβ Dunja D., Haslbeck Martin, Kemter Kristina F., Truger Marietta S., Sommerhoff Christian P., Ferdinandusse Sacha, Wanders Ronald J., Gersting Søren W., Muntau Ania C. The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase PLoS ONE 2014;9 (4):e93852 [PubMed]

2013

• 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]
• Marcadier Julien L., Smith Amanda M., Pohl Daniela, Schwartzentruber Jeremy, Al-Dirbashi Osama Y., Majewski Jacek, Ferdinandusse Sacha, Wanders Ronald J. A., Bulman Dennis E., Boycott Kym M., Chakraborty Pranesh, Geraghty Michael T., Boycott Kym, Friedman Jan, Michaud Jacques, Bernier Francois, Brudno Michael, Fernandez Bridget, Knoppers Bartha, Samuels Mark, Scherer Steve Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria Orphanet journal of rare diseases 2013;8 (1):98 [PubMed]
• 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]
• van Kuilenburg A. B. P., Ferdinandusse S., Wanders R. J. A. Screening for dihydropyrimidine dehydrogenase deficiency to prevent severe 5-fluorouracil and capeciatbine-associated toxicity Nederlands tijdschrift voor klinische chemie en laboratoriumgeneeskunde 2013;38:202-205
• Van Kuilenburg A. B.P., Ferdinandusse S., Wanders R. J.A. Screening for dihydropyrimidine dehydrogenase deficiency to prevent severe 5-fluorouracil and capecitabine-associated toxicity Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde 2013;38 (4):202-205

2012

• 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]
• Houten Sander M., Denis Simone, Argmann Carmen A., Jia Yuzhi, Ferdinandusse Sacha, Reddy Janardan K., Wanders Ronald J. A. Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids Journal of lipid research 2012;53 (7):1296-1303 [PubMed]
• Wanders Ronald J. A., Ferdinandusse Sacha Peroxisomes, Peroxisomal Diseases, and the Hepatotoxicity Induced by Peroxisomal Metabolites Current drug metabolism 2012;13 (10):1401-1411 [PubMed]
• McMillan Hugh J., Worthylake Thea, Schwartzentruber Jeremy, Gottlieb Chloe C., Lawrence Sarah E., Mackenzie Alex, Beaulieu Chandree L., Mooyer Petra A., Wanders Ronald J., Majewski Jacek, Bulman Dennis E., Geraghty Michael T., Ferdinandusse Sacha, Boycott Kym M. Specific combination of compound heterozygous mutations in 17beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency Orphanet journal of rare diseases 2012;7 (1):90 [PubMed]
• 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]
• 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]
• Wanders Ronald J. A., Komen Jasper, Ferdinandusse Sacha Phytanic acid metabolism in health and disease BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2011;1811 (9):498-507 [PubMed]

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]
• Denk Gerald U., Maitz Silvia, Wimmer Ralf, Rust Christian, Invernizzi Pietro, Ferdinandusse Sacha, Kulik Wim, Fuchsbichler Andrea, Fickert Peter, Trauner Michael, Hofmann Alan F., Beuers Ulrich Conjugation Is Essential for the Anticholestatic Effect of NorUrsodeoxycholic Acid in Taurolithocholic Acid-Induced Cholestasis in Rat Liver Hepatology (Baltimore, Md.) 2010;52 (5):1758-1768 [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.)
• Wanders R. J. A., Ferdinandusse S., Brites P., Kemp S. Peroxisomes, lipid metabolism and lipotoxicity BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2010;1801 (3):272-280 [PubMed]
• 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

• Ferdinandusse Sacha, Wanders Ronald J. A. Bile acid abnormalities in peroxisomal disordersin: Adolf Stiehl, Michael Trauner, Ulrich Beuers, D. Keppler, editors. Bile acid biology and therapeutic actions. Dordrecht: Springer; 2009. p. 243-252
• Ferdinandusse Sacha, Denis Simone, Faust Phyllis L., Wanders Ronald J. A. Bile acids: the role of peroxisomes Journal of lipid research 2009;50 (11):2139-2147 [PubMed]
• Ferdinandusse Sacha, Denis Simone, Dacremont Georges, Wanders Ronald J. A. Toxicity of peroxisomal C27-bile acid intermediates Molecular genetics and metabolism 2009;96 (3):121-128 [PubMed]

2008

• Ferdinandusse Sacha, Zomer Anna W. M., Komen Jasper C., van den Brink Christina E., Thanos Melissa, Hamers Frank P. T., Wanders Ronald J. A., van der Saag Paul T., Poll-The Bwee Tien, Brites Pedro Ataxia with loss of Purkinje cells in a mouse model for Refsum disease Proceedings of the National Academy of Sciences of the United States of America 2008;105 (46):17712-17717 [PubMed]
• Chan Jeannie, Donalson Lisa M., Kushwaha Rampratap S., Ferdinandusse Sacha, Vandeberg Jane F., Vandeberg John L. Differential expression of hepatic genes involved in cholesterol homeostasis in high- and low-responding strains of laboratory opossums Metabolism: clinical and experimental 2008;57 (5):718-724 [PubMed]
• Thompson S. A., Calvin J., Hogg S., Ferdinandusse S., Wanders R. J. A., Barker R. A. Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency Journal of neurology, neurosurgery, and psychiatry 2008;79 (4):448-450 [PubMed]

2007

• Keane Megan H., Overmars Henk, Wikander Thomas M., Ferdinandusse Sacha, Duran Marinus, Wanders Ronald J. A., Faust Phyllis L. Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger mice Hepatology (Baltimore, Md.) 2007;45 (4):982-997 [PubMed]
• 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]
• Carnell Andrew J., Hale Ian, Denis Simone, Wanders Ronald J. A., Isaacs William B., Wilson Brice A., Ferdinandusse Sacha Design, synthesis, and in vitro testing of alpha-methylacyl-CoA racemase inhibitors Journal of medicinal chemistry 2007;50 (11):2700-2707 [PubMed]
• Gloerich J., van den Brink D. M., Ruiter J. P. N., van Vlies N., Vaz F. M., Wanders R. J. A., Ferdinandusse S. Metabolism of phytol to phytanic acid in the mouse, and the role of PPARalpha in its regulation Journal of lipid research 2007;48 (1):77-85 [PubMed]
• Komen J. C. New insights in phytanic acid metabolism and toxicity 2007. 122p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders Ronald J. A.; Co-supervisor: Ferdinandusse Sacha)
• van Vlies Naomi, Ferdinandusse Sacha, Turkenburg Marjolein, Wanders Ronald J. A., Vaz Frédéric M. PPAR alpha-activation results in enhanced carnitine biosynthesis and OCTN2-mediated hepatic carnitine accumulation BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS 2007;1767 (9):1134-1142 [PubMed]

2006

• Gloerich J., IJlst L., Wanders R. J. A., Ferdinandusse S. Bezafibrate induces FALDH in human fibroblasts; implications for Sjögren-Larsson syndrome Molecular genetics and metabolism 2006;89 (1-2):111-115 [PubMed]
• Ferdinandusse Sacha, Denis Simone, Mooyer Petra A. W., Dekker Conny, Duran Marinus, Soorani-Lunsing Roelineke J., Boltshauser Eugen, Macaya Alfons, Gärtner Jutta, Majoie Charles B. L. M., Barth Peter G., Wanders Ronald J. A., Poll-The Bwee Tien Clinical and biochemical spectrum of D-bifunctional protein deficiency Annals of neurology 2006;59 (1):92-104 [PubMed]
• Gloerich J. Metabolic consequences of branched-chain fatty acid accumulation in health and disease 2006. 102p. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wanders R. J. A., Wirtz K. W. A.; Co-supervisor: Ferdinandusse S.)
• Ferdinandusse Sacha, Ylianttila Mari S., Gloerich Jolein, Koski M. Kristian, Oostheim Wendy, Waterham Hans R., Hiltunen J. Kalervo, Wanders Ronald J. A., Glumoff Tuomo Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis American journal of human genetics 2006;78 (1):112-124 [PubMed]
• Ferdinandusse S., Kostopoulos P., Denis S., Rusch H., Overmars H., Dillmann U., Reith W., Haas D., Wanders R. J. A., Duran M., Marziniak M. Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy American journal of human genetics 2006;78 (6):1046-1052 [PubMed]
• Gloerich J., Ruiter J. P. N., van den Brink D. M., Ofman R., Ferdinandusse S., Wanders R. J. A. Peroxisomal trans-2-enoyl-CoA reductase is involved in phytol degradation FEBS letters 2006;580 (8):2092-2096 [PubMed]
• Ferdinandusse Sacha, Houten Sander M. Peroxisomes and bile acid biosynthesis BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH 2006;1763 (12):1427-1440 [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]

2005

• Gloerich J., van Vlies N., Jansen G. A., Denis S., Ruiter J. P. N., van Werkhoven M. A., Duran M., Vaz F. M., Wanders R. J. A., Ferdinandusse S. A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPARalpha-dependent and -independent pathways Journal of lipid research 2005;46 (4):716-726 [PubMed]
• Ferdinandusse Sacha, Denis Simone, Overmars Henk, van Eeckhoudt Lisbeth, van Veldhoven Paul P., Duran Marinus, Wanders Ronald J. A., Baes Myriam Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice Journal of biological chemistry 2005;280 (19):18658-18666 [PubMed]
• 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]
• Zha Shan, Ferdinandusse Sacha, Hicks Jessica L., Denis Simone, Dunn Thomas A., Wanders Ronald J., Luo Jun, de Marzo Angelo M., Isaacs William B. Peroxisomal branched chain fatty acid beta-oxidation pathway is upregulated in prostate cancer Prostate 2005;63 (4):316-323 [PubMed]

2004

• Mayatepek Ertan, Ferdinandusse Sacha, Meissner Thomas, Wanders Ronald J. A. Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects Clinica chimica acta; international journal of clinical chemistry 2004;345 (1-2):89-92 [PubMed]
• Ferdinandusse Sacha, Denis Simone, van Roermund Carlo W. T., Wanders Ronald J. A., Dacremont Georges Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids Journal of lipid research 2004;45 (6):1104-1111 [PubMed]
• Gootjes J., Skovby F., Christensen E., Wanders R. J. A., Ferdinandusse S. Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder Neurology 2004;62 (11):2077-2081 [PubMed]
• Clarke C. E., Alger S., Preece M. A., Burdon M. A., Chavda S., Denis S., Ferdinandusse S., Wanders R. J. A. Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency Neurology 2004;63 (1):188-189 [PubMed]

2003

• Zha Shan, Ferdinandusse Sacha, Denis Simone, Wanders Ronald J., Ewing Charles M., Luo Jun, de Marzo Angelo M., Isaacs William B. Alpha-methylacyl-CoA racemase as an androgen-independent growth modifier in prostate cancer Cancer research 2003;63 (21):7365-7376 [PubMed]
• Gloerich Jolein, Denis Simone, van Grunsven Elisabeth G., Dacremont Georges, Wanders Ronald J. A., Ferdinandusse Sacha A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency Journal of lipid research 2003;44 (3):640-644 [PubMed]
• Ferdinandusse Sacha, Finckh Barbara, de Hingh Yvette C., Stroomer Lida E. M., Denis Simone, Kohlschütter Alfried, Wanders Ronald J. A. Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency Molecular genetics and metabolism 2003;79 (4):281-287 [PubMed]
• 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]
• Depreter Marianne, Vandesompele Jo, Ferdinandusse Sacha, Speleman Frank, Roels Frank Regulation of peroxisomal genes by DHEA and vitamin D Advances in experimental medicine and biology 2003;544:237-242 [PubMed]
• Ferdinandusse Sacha, Denis Simone, Dacremont Georges, Wanders Ronald J. A. Studies on the metabolic fate of n-3 polyunsaturated fatty acids Journal of lipid research 2003;44 (10):1992-1997 [PubMed]

2002

• Luo Jun, Zha Shan, Gage Wesley R., Dunn Thomas A., Hicks Jessica L., Bennett Christina J., Ewing Charles M., Platz Elizabeth A., Ferdinandusse Sacha, Wanders Ronald J., Trent Jeffrey M., Isaacs William B., de Marzo Angelo M. Alpha-methylacyl-CoA racemase: a new molecular marker for prostate cancer Cancer research 2002;62 (8):2220-2226 [PubMed]
• McLean B. N., Allen J., Ferdinandusse S., Wanders R. J. A. A new defect of peroxisomal function involving pristanic acid: a case report Journal of neurology, neurosurgery, and psychiatry 2002;72 (3):396-399 [PubMed]
• Ferdinandusse Sacha, Meissner Thomas, Wanders Ronald J. A., Mayatepek Ertan Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes Biochemical and biophysical research communications 2002;293 (1):269-273 [PubMed]
• 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.)
• Renes Ingrid B., Verburg Melissa, Bulsing Nathalie P., Ferdinandusse Sacha, Büller Hans A., Dekker Jan, Einerhand Alexandra W. C. Protection of the Peyer's patch-associated crypt and villus epithelium against methotrexate-induced damage is based on its distinct regulation of proliferation Journal of pathology 2002;198 (1):60-68 [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]
• Verburg Melissa, Renes Ingrid B., van Nispen Danielle J. P. M., Ferdinandusse Sacha, Jorritsma Marieke, Büller Hans A., Einerhand Alexandra W. C., Dekker Jan Specific responses in rat small intestinal epithelial mRNA expression and protein levels during chemotherapeutic damage and regeneration journal of histochemistry and cytochemistry 2002;50 (11):1525-1536 [PubMed]
• Ferdinandusse S., Rusch H., van Lint A. E. M., Dacremont G., Wanders R. J. A., Vreken P. Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders Journal of lipid research 2002;43 (3):438-444 [PubMed]

2001

• Ferdinandusse S., Denis S., Mooijer P. A., Zhang Z., Reddy J. K., Spector A. A., Wanders R. J. Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid Journal of lipid research 2001;42 (12):1987-1995 [PubMed]
• 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

• Jansen G. A., Hogenhout E. M., Ferdinandusse S., Waterham H. R., Ofman R., Jakobs C., Skjeldal O. H., Wanders R. J. Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease Human molecular genetics 2000;9 (8):1195-1200 [PubMed]
• Ferdinandusse S., Denis S., Clayton P. T., Graham A., Rees J. E., Allen J. T., McLean B. N., Brown A. Y., Vreken P., Waterham H. R., Wanders R. J. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy Nature genetics 2000;24 (2):188-191 [PubMed]
• Ferdinandusse S., Denis S., van Berkel E., Dacremont G., Wanders R. J. Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx). Activity measurements in liver and fibroblasts using a newly developed method Journal of lipid research 2000;41 (3):336-342 [PubMed]
• Ferdinandusse S., Denis S., IJlst L., Dacremont G., Waterham H. R., Wanders R. J. Subcellular localization and physiological role of alpha-methylacyl-CoA racemase Journal of lipid research 2000;41 (11):1890-1896 [PubMed]

1999

• 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]
• Jansen G. A., Ferdinandusse S., Hogenhout E. M., Verhoeven N. M., Jakobs C., Wanders R. J. Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease Advances in experimental medicine and biology 1999;466:371-376 [PubMed]
• Jansen G. A., Ofman R., Denis S., Ferdinandusse S., Hogenhout E. M., Jakobs C., Wanders R. J. Phytanoyl-CoA hydroxylase from rat liver. Protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid alpha-oxidation Journal of lipid research 1999;40 (12):2244-2254 [PubMed]

1998

• Jansen G. A., Ferdinandusse S., Skjeldal O. H., Stokke O., de Groot C. J., Jakobs C., Wanders R. J. Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA Journal of inherited metabolic disease 1998;21 (3):288-291 [PubMed]

1997

• Jansen G. A., Ofman R., Ferdinandusse S., IJlst L., Muijsers A. O., Skjeldal O. H., Stokke O., Jakobs C., Besley G. T., Wraith J. E., Wanders R. J. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene Nature genetics 1997;17 (2):190-193 [PubMed]