F.M. Vaz PhD publications

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Publications PhD F.M. Vaz

Position
Other Academic Staff
Main activities
Patient care, Research
Specialisation
Clinical Biochemist IEM
Focus of research

My research focusses on the metabolism of complex lipids and their role in genetic disease, acquired disorders and aging. Lipid metabolism is a relatively uncharted territory but the etiology of many diseases, both mono- and polygenic, is increasingly associated with (disturbances of) complex lipid metabolism. Highlights of my research efforts include the discovery of new inborn errors of (lipid) metabolism (NTCP, PCYT2 deficiency) and the development of a newborn screening test for cerebrotendinous xanthomatosis (CTX), a disorder of bile acid synthesis, which hopefully will allow the introduction of this disorder in the Dutch neonatal screening program.

My group’s focus is broadening as we also are involved in trying to understand the metabolic perturbations of communal and acquired disorders such as heart disease and diabetes as part of large consortia including CVON (Energise!). More recently, we have also started collaborations investigating the lipidome of infectious diseases as meningitis and COVID-19. To study complex lipid metabolism it is required to be able to comprehensively analyze lipids in various biological matrices. For this reason, over the last 20 years my group has developed and used state-of-the-art technological metabolomics/lipidomics platforms. With the aid of research technology grants we have acquired 2 new innovative mass spectrometers which we have used to develop leading lipidomics and metabolomics platforms that are increasingly applied in search of disease biomarkers and functional characterization of model systems. An important aspect that we are pioneering together with bioinformaticians in our group is the development of suitable data processing and representation software for this type of complex data. Combining these aspects with an in depth knowledge of metabolism allows the characterization of metabolism and detailed analysis of its perturbation by disease, also beyond genetic disorders.

Amsterdam UMC Research Institutes
AMC departments
All 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]
  • Muilwijk Mirthe, Callender Nardie, Goorden Susan, Vaz Frédéric M., van Valkengoed Irene G. M. Sex differences in the association of sphingolipids with age in Dutch and South-Asian Surinamese living in Amsterdam, the Netherlands Biology of sex differences 2021;12 (1) [PubMed]

2020

  • 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]
  • Ferdinandusse Sacha, McWalter Kirsty, te Brinke Heleen, IJlst Lodewijk, Mooijer Petra M., Ruiter Jos P. N., van Lint Alida E. M., Pras-Raves Mia, Wever Eric, Millan Francisca, Guillen Sacoto Maria J., Begtrup Amber, Tarnopolsky Mark, Brady Lauren, Ladda Roger L., Sell Susan L., Nowak Catherine B., Douglas Jessica, Tian Cuixia, Ulm Elizabeth, Perlman Seth, Drack Arlene V., Chong Karen, Martin Nicole, Brault Jennifer, Brokamp Elly, Toro Camilo, Gahl William A., Macnamara Ellen F., Wolfe Lynne, Alejandro Mercedes E., Azamian Mahshid S., Bacino Carlos A., Balasubramanyam Ashok, Burrage Lindsay C., Chao Hsiao-Tuan, Clark Gary D., Craigen William J., Dai Hongzheng, Dhar Shweta U., Emrick Lisa T., Goldman Alica M., Hanchard Neil A., Jamal Fariha, Karaviti Lefkothea, Zwijnenburg Petra J. G., van Kampen Antoine H. C., Wanders Ronald J. A., Waterham Hans R., Vaz Frédéric M. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids Genetics in medicine 2020 [PubMed]
  • Václavík Jan, Mádrová Lucie, Kouřil Štěpán, de Sousa Julie, Brumarová Radana, Janečková Hana, Jáčová Jaroslava, Friedecký David, Knapková M. ria, Kluijtmans Leo A. J., Grünert Sarah C., Vaz Frédéric M., Janzen Nils, Wanders Ronald J. A., Wevers Ron A., Adam Tomáš A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency JIMD reports 2020;54 (1):79-86 [PubMed]
  • Eskes Eline C. B., Sjouke Barbara, Vaz Frédéric M., Goorden Susan M. I., van Kuilenburg André B. P., Aerts Johannes M. F. G., Hollak Carla E. M. Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers Molecular genetics and metabolism 2020;130 (1):16-26 [PubMed]
  • Darwisch Warda, von Spangenberg Marino, Lehmann Jana, Singin Öznur, Deubert Geralt, Kühl Sandra, Roos Johannes, Horstmann Heinz, Körber Christoph, Hoppe Simone, Zheng Hongwei, Kuner Thomas, Pras-Raves Mia L., van Kampen Antoine H. C., Waterham Hans R., Schwarz Kathrin V., Okun J. rgen G., Schultz Christian, Vaz Frédéric M., Islinger Markus Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis Communications Biology 2020;3 (1) [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]
  • Muilwijk Mirthe, Goorden Susan M. I., Celis-Morales Carlos, Hof Michel H., Ghauharali-van der Vlugt Karen, Beers-Stet Femke S., Gill Jason M. R., Vaz Frédéric M., van Valkengoed Irene G. M. Contributions of amino acid, acylcarnitine and sphingolipid profiles to type 2 diabetes risk among South-Asian Surinamese and Dutch adults BMJ open diabetes research and care 2020;8 (1) [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]
  • Held Ntsiki M. Exploring cellular metabolism to improve cardiometabolic health 2020. 256p. ISBN 9789463756990. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Houtkooper Riekelt H. L.; Co-supervisors: van Weeghel Michel, Vaz Fred M.)
  • 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]
  • Gosselt Helen R., Muller Ittai B., Jansen Gerrit, van Weeghel Michel, Vaz Frédéric M., Hazes Johanna M. W., Heil Sandra G., de Jonge Robert Identification of metabolic biomarkers in relation to methotrexate response in early rheumatoid arthritis Journal of Personalized Medicine 2020;10 (4):1-14 [PubMed]
  • Draijer Laura G., Froon-Torenstra Denise, van Weeghel Michel, Vaz Frédéric M., Bohte Anneloes E., Holleboom Adriaan G., Benninga Marc A., Koot Bart G. P. Lipidomics in Nonalcoholic Fatty Liver Disease: Exploring Serum Lipids as Biomarkers for Pediatric Nonalcoholic Fatty Liver Disease Journal of pediatric gastroenterology and nutrition 2020;71 (4):433-439 [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]
  • Timmer Corrie, Goorden Susan M. I., Coene Karlien L. M., ten Hoedt Amber E., Kluijtmans Leo A. J., Janssen Mirian C. H., Rennings Alexander, Prinsen Hubertus C. M. T., Wamelink Mirjam M. C., Ruijter George J. G., Körver-Keularts Irene, Heiner-Fokkema M. Rebecca, van Spronsen Francjan J., Hollak Carolina E. M., Vaz Fred M., Bosch Antonette M., Huigen Marleen C. D. G. Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation JIMD reports 2020;43 (6):1143
  • Richmond Phillip A., van der Kloet Frans, Vaz Frederic M., Lin David, Uzozie Anuli, Graham Emma, Kobor Michael, Mostafavi Sara, Moerland Perry D., Lange Philipp F., van Kampen Antoine H. C., Wasserman Wyeth W., Engelen Marc, Kemp Stephan, van Karnebeek Clara D. M. Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy Frontiers in cell and developmental biology 2020;8 [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]
  • Stokes Felicity, Acquaviva-Bourdain Cecile, Hoppe Bernd, Lieske John C., Lindner Elisabeth, Toulson Greg, Vaz Frédéric M., Rumsby Gill Plasma oxalate: comparison of methodologies Urolithiasis 2020;48 (6):473-480 [PubMed]
  • Vaz Frédéric M., McDermott John H., Engelen Marc, Banka Siddharth Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders Brain 2020;143 (9):1-2 [PubMed]
  • Held Ntsiki M., Wefers Jakob, van Weeghel Michel, Daemen Sabine, Hansen Jan, Vaz Frédéric M., van Moorsel Dirk, Hesselink Matthijs K. C., Houtkooper Riekelt H., Schrauwen Patrick Skeletal muscle in healthy humans exhibits a day-night rhythm in lipid metabolism Molecular metabolism 2020;37 [PubMed]
  • Nahon Kimberly J., Janssen Laura G. M., Sardjoe Mishre Aashley S. D., Bilsen Manu P., van der Eijk Jari A., Botani Kani, Overduin Lisanne A., Ruiz Jonatan R., Burakiewicz Jedrzej, Dzyubachyk Oleh, Webb Andrew G., Kan Hermien E., Berbée Jimmy F. P., van Klinken Jan-Bert, van Dijk Ko Willems, van Weeghel Michel, Vaz Frédéric M., Coskun Tamer, Jazet Ingrid M., Kooijman Sander, Martinez-Tellez Borja, Boon Mariëtte R., Rensen Patrick C. N. The effect of mirabegron on energy expenditure and brown adipose tissue in healthy lean South Asian and Europid men Diabetes, obesity & metabolism 2020;22 (11):2032-2044 [PubMed]
  • Hong Xinying, Daiker Jessica, Sadilek Martin, DeBarber Andrea E., Chiang John, Duan Jie, Bootsma Albert H., Huidekoper Hidde H., Vaz Frédéric M., Gelb Michael H. Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots Genetics in medicine 2020;22 (10):1606-1612 [PubMed]

2019

  • Stautemas Jan, van Kuilenburg André B. P., Stroomer Lida, Vaz Fred, Blancquaert Laura, Lefevere Filip B. D., Everaert Inge, Derave Wim Acute aerobic exercise leads to increased plasma levels of R-and S-β-aminoisobutyric acid in humans Frontiers in physiology 2019;10 (SEP) [PubMed]
  • 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]
  • Wasim Muhammad, Khan Haq Nawaz, Ayesha Hina, Goorden Susanna M. I., Vaz Frederic M., van Karnebeek Clara D. M., Rabbi Awan Fazli Biochemical screening of intellectually disabled patients: A stepping stone to initiate a newborn screening program in Pakistan Frontiers in neurology 2019;10 (JUL) [PubMed]
  • van Son J, Rietbroek R C, Vaz F M, Hollak C E M Bizarre behavior and decreased level of consciousness in an adult patient Netherlands journal of medicine 2019;77 (1):25-28 [PubMed]
  • Baban Anwar, Adorisio Rachele, Corica Bernadette, Rizzo Cristiano, Calì Federica, Semeraro Michela, Taurisano Roberta, Magliozzi Monia, Carrozzo Rosalba, Parisi Francesco, Dallapiccola Bruno, Vaz Frédéric M., Drago Fabrizio, Dionisi-Vici Carlo Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis American journal of medical genetics. Part A 2019;182 (1):64-70 [PubMed]
  • van Nierop F. Samuel, Meessen Emma C. E., Nelissen Kyra G. M., Achterbergh Roos, Lammers Laureen A., Vaz Frédéric M., Mathôt Ron A. A., Klümpen Heinz-Josef, Olde Damink Steven W., Schaap Frank G., Romijn Johannes A., Kemper E. Marleen, Soeters Maarten R. Differential effects of a 40-hour fast and bile acid supplementation on human GLP-1 and FGF19 responses American journal of physiology. Endocrinology and metabolism 2019;317 (3):E494-E502 [PubMed]
  • Ruiz Matthieu, Cuillerier Alexanne, Daneault Caroline, Deschênes Sonia, Frayne Isabelle Robillard, Bouchard Bertrand, Forest Anik, Legault Julie Thompson, Vaz Frederic M., Rioux John D., Burelle Yan, Rosiers Christine Des Lipidomics unveils lipid dyshomeostasis and low circulating plasmalogens as biomarkers in a monogenic mitochondrial disorder JCI insight 2019;4 (14) [PubMed]
  • Peters Eva L., Comerford David, Vaz Frédéric M., van der Laarse Willem J. Meijer and Vloedman’s histochemical demonstration of mitochondrial coupling obeys Lambert–Beer’s law in the myocardium Histochemistry and cell biology 2019;151 (1):85-90 [PubMed]
  • Vaz Frédéric M., McDermott John H., Alders Mariëlle, Wortmann Saskia B., Kölker Stefan, Pras-Raves Mia L., Vervaart Martin A. T., van Lenthe Henk, Luyf Angela C. M., Elfrink Hyung L., Metcalfe Kay, Cuvertino Sara, Clayton Peter E., Yarwood Rebecca, Lowe Martin P., Lovell Simon, Rogers Richard C., van Kampen Antoine H. C., Ruiter Jos P. N., Wanders Ronald J. A., Ferdinandusse Sacha, van Weeghel Michel, Engelen Marc, Banka Siddharth Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia Brain 2019;142 (11):3382-3397 [PubMed]
  • Tort Frederic, Ugarteburu Olatz, Texidó Laura, Gea-Sorlí Sabrina, García-Villoria Judit, Ferrer-Cortès X. nia, Arias Ángela, Matalonga Leslie, Gort Laura, Ferrer Isidre, Guitart-Mampel Mariona, Garrabou Glòria, Vaz Frederick M., Pristoupilova Ana, Rodríguez María Isabel Esteban, Beltran Sergi, Cardellach Francesc, Wanders Ronald Ja, Fillat Cristina, García-Silva María Teresa, Ribes Antonia Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology Human mutation 2019;40 (10):1700-1712 [PubMed]
  • Gorcenco Sorina, Vaz Frédéric M., Tracewska-Siemiatkowska Anna, Tranebjærg Lisbeth, Cremers Frans P. M., Ygland Emil, Kicsi Jenő, Rendtorff Nanna Dahl, Möller Claes, Kjellström Ulrika, Andréasson Sten, Puschmann Andreas Oral therapy for riboflavin transporter deficiency - What is the regimen of choice? Parkinsonism & related disorders 2019;61:245-247 [PubMed]
  • Koop A. M. C., Hagdorn Q. A. J., Bossers G. P. L., van Leusden T., Gerding A., van Weeghel M., Vaz F. M., Koonen D. P. Y., Silljé H. H. W., Berger R. M. F., Bartelds B. Right ventricular pressure overload alters cardiac lipid composition International journal of cardiology 2019;287:96-105 [PubMed]
  • Ranea-Robles Pablo, Yu Chunli, van Vlies Naomi, Vaz Frédéric M., Houten Sander M. Slc22a5 haploinsufficiency does not aggravate the phenotype of the long-chain acyl-CoA dehydrogenase KO mouse 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]
  • Tarahomi M, Vaz F M, Straalen J P van, Schrauwen F A P, Wely M van, Hamer G, Repping S, Mastenbroek S The composition of human preimplantation embryo culture media and their stability during storage and culture Human reproduction (Oxford, England) 2019;34 (8):1450-1461 [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

  • Verly I. R. N., van Kuilenburg A. B. P., Abeling N. G. G. M., Goorden S. M. I., Fiocco M., Vaz F. M., van Noesel M. M., Zwaan C. M., Kaspers G. J. L., Merks J. H. M., Caron H. N., Tytgat G. A. M. 3-Methoxytyramine: An independent prognostic biomarker that associates with high-risk disease and poor clinical outcome in neuroblastoma patients European journal of cancer (Oxford, England 2018;90:102-110 [PubMed]
  • Arends Maarten, Biegstraaten Marieke, Wanner Christoph, Sirrs Sandra, Mehta Atul, Elliott Perry M., Oder Daniel, Watkinson Oliver T., Bichet Daniel G., Khan Aneal, Iwanochko Mark, Vaz Frédéric M., van Kuilenburg André B. P., West Michael L., Hughes Derralynn A., Hollak Carla E. M. Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study Journal of medical genetics 2018;55:351-358 [PubMed]
  • Omardien Soraya, Drijfhout Jan W., Vaz Frédéric M., Wenzel Michaela, Hamoen Leendert W., Zaat Sebastian A. J., Brul Stanley Bactericidal activity of amphipathic cationic antimicrobial peptides involves altering the membrane fluidity when interacting with the phospholipid bilayer BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES 2018;1860 (11):2404-2415 [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]
  • Ferreira C. R., Goorden S. M. I., Soldatos A., Byers H. M., Ghauharali-van der Vlugt J. M. M., Beers-Stet F. S., Groden C., van Karnebeek C. D., Gahl W. A., Vaz F. M., Jiang X., Vernon H. J. Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability Molecular genetics and metabolism 2018;124 (3):204-209 [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]
  • Wong Yuk Wai, Stroobants An K., Rosheuvel Marjory, Vaz Fred, Klinkspoor Harriët Een onverwachte bevinding bij de verificatie van een nieuw type afnamebuis Laboratoriumgeneeskunde 2018;1 (4):59-76
  • 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]
  • Sultan Mutaz, Rao Anuradha, Elpeleg Orly, Vaz Frédéric M., Abu Libdeh Bassam Y., Karpen Saul J., Dawson Paul A. Organic Solute Transporter-beta (SLC51B) Deficiency in Two Brothers with Congenital Diarrhea and Features of Cholestasis Hepatology (Baltimore, Md.) 2018;68 (2):590-598 [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. Plasma lipidomics as a diagnostic tool for peroxisomal disorders Journal of inherited metabolic disease 2018;41 (3):489–498 [PubMed]
  • Held Ntsiki M., Kuipers Eline N., van Weeghel Michel, van Klinken Jan Bert, Denis Simone W., Lombès Marc, Wanders Ronald J., Vaz Frédéric M., Rensen Patrick C. N., Verhoeven Arthur J., Boon Mariëtte R., Houtkooper Riekelt H. Pyruvate dehydrogenase complex plays a central role in brown adipocyte energy expenditure and fuel utilization during short-term beta-adrenergic activation Scientific reports 2018;8 (1) [PubMed]
  • Voorink-Moret M., Goorden S. M. I., van Kuilenburg A. B. P., Wijburg F. A., Ghauharali-van der Vlugt J. M. M., Beers-Stet F. S., Zoetekouw A., Kulik W., Hollak C. E. M., Vaz F. M. Rapid screening for lipid storage disorders using biochemical markers Expert center data and review of the literature Molecular genetics and metabolism 2018;123 (2):76-84 [PubMed]
  • Stroek Kevin, Bouva Marelle J., Schielen Peter C. J. I., Vaz Frédéric M., Heijboer Annemieke C., de Jonge Robert, Boelen Anita, Bosch Annet M. Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data Molecular genetics and metabolism 2018;124 (1):50-56 [PubMed]
  • Demirdas Serwet, van Spronsen Francjan J., Hollak Carla E. M., van der Lee J. Hanneke, Bisschop Peter H., Vaz Fred M., ter Horst Nienke M., Rubio-Gozalbo M. Estela, Bosch Annet M. Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria" Annals of nutrition & metabolism 2018;72 (1):80-81 [PubMed]
  • Roeben Benjamin, Schüle Rebecca, Ruf Susanne, Bender Benjamin, Alhaddad Bader, Benkert Tanja, Meitinger Thomas, Reich Selina, Böhringer Judith, Langhans Claus-Dieter, Vaz Frédéric M., Wortmann Saskia B., Marquardt Thorsten, Haack Tobias B., Krägeloh-Mann Ingeborg, Schöls Ludger, Synofzik Matthis SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family Journal of medical genetics 2018;55 (1):39-47 [PubMed]
  • Tang M. W., van Nierop F. S., Koopman F. A., Eggink H. M., Gerlag D. M., Chan M. W., Zitnik R., Vaz F. M., Romijn J. A., Tak P. P., Soeters M. R. Single vagus nerve stimulation reduces early postprandial C-peptide levels but not other hormones or postprandial metabolism Clinical rheumatology 2018;37 (2):505-514 [PubMed]
  • Muilwijk Mirthe, Vaz Frédéric M., Celis-Morales Carlos, Peters Ron J. G., van Valkengoed Irene G. M. The association of acylcarnitines and amino acids with age in Dutch and south-asian surinamese living in Amsterdam Journal of clinical endocrinology and metabolism 2018;103 (10):3783-3791 [PubMed]

2017

  • Vaz Frédéric M., Bootsma Albert H., Kulik Willem, Verrips Aad, Wevers Ron A., Schielen Peter C., DeBarber Andrea E., Huidekoper Hidde H. A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios Journal of lipid research 2017;58 (5):1002-1007 [PubMed]
  • Gao Arwen W., Chatzispyrou Iliana A., Kamble Rashmi, Liu Yasmine J., Herzog Katharina, Smith Reuben L., van Lenthe Henk, Vervaart Martin A. T., van Cruchten Arno, Luyf Angela C., van Kampen Antoine, Pras-Raves Mia L., Vaz Frédéric M., Houtkooper Riekelt H. A sensitive mass spectrometry platform identifies metabolic changes of life history traits in C-elegans Scientific reports 2017;7 (1):2408 [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]
  • Martinot Emmanuelle, Baptissart Marine, Véga Aurélie, Sèdes Lauriane, Rouaisnel Betty, Vaz Fred, Saru Jean-Paul, de Haze Angélique, Baron Silvère, Caira Françoise, Beaudoin Claude, Volle David H. Bile acid homeostasis controls CAR signaling pathways in mouse testis through FXRalpha Scientific reports 2017;7:42182 [PubMed]
  • Mocking R. J. T., Nap T. S., Westerink A. M., Assies J., Vaz F. M., Koeter M. W. J., Ruhé H. G., Schene A. H. Biological profiling of prospective antidepressant response in major depressive disorder: Associations with (neuro)inflammation, fatty acid metabolism, and amygdala-reactivity Psychoneuroendocrinology 2017;79:84-92 [PubMed]
  • Verly Iedan R. N., van Kuilenburg André B. P., Abeling Nico G. G. M., Goorden Susan M. I., Fiocco Marta, Vaz Frédéric M., van Noesel Max M., Zwaan C. Michel, Kaspers Gertjan L., Merks Johannes H. M., Caron Huib N., Tytgat Godelieve A. M. Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients European journal of cancer (Oxford, England 2017;72:235-243 [PubMed]
  • Huffnagel Irene C., van de Beek Malu-Clair, Showers Amanda L., Orsini Joseph J., Klouwer Femke C. C., Dijkstra Inge M. E., Schielen Peter C., van Lenthe Henk, Wanders Ronald J. A., Vaz Frédéric M., Morrissey Mark A., Engelen Marc, Kemp Stephan Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy Molecular genetics and metabolism 2017;122 (4):209-215 [PubMed]
  • Fan Yang-Yi, Vaz Frederic M., Chapkin Robert S. Dietary fat and fiber interactively modulate apoptosis and mitochondrial bioenergetic profiles in mouse colon in a site-specific manner European journal of cancer prevention 2017;26 (4):301-308 [PubMed]
  • van Valkengoed Irene G. M., Argmann Carmen, Ghauharali-van der Vlugt Karen, Aerts Johannes M. F. G., Brewster Lizzy M., Peters R. J. G., Vaz Frédéric M., Houtkooper Riekelt H. Ethnic differences in metabolite signatures and type 2 diabetes: a nested case-control analysis among people of South Asian, African and European origin NUTRITION & DIABETES 2017;7 (12) [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]
  • Vaz Frédéric M., Huidekoper Hidde H., Paulusma Coen C. Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype Digestive diseases (Basel, Switzerland) 2017;35 (3):259-260 [PubMed]
  • Arends Maarten, Wijburg Frits A., Wanner Christoph, Vaz Frédéric M., van Kuilenburg André B. P., Hughes Derralynn A., Biegstraaten Marieke, Mehta Atul, Hollak Carla E. M., Langeveld Mirjam Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease Molecular genetics and metabolism 2017;121 (2):157-161 [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]
  • Gao Yuanqing, Vidal-Itriago Andrés, Kalsbeek Martin J., Layritz Clarita, García-Cáceres Cristina, Tom Robby Zachariah, Eichmann Thomas O., Vaz Frédéric M., Houtkooper Riekelt H., van der Wel Nicole, Verhoeven Arthur J., Yan Jie, Kalsbeek Andries, Eckel Robert H., Hofmann Susanna M., Yi Chun-Xia Lipoprotein Lipase Maintains Microglial Innate Immunity in Obesity Cell reports 2017;20 (13):3034-3042 [PubMed]
  • Skrunes Rannveig, Tøndel Camilla, Leh Sabine, Larsen Kristin Kampevold, Houge Gunnar, Davidsen Einar Skulstad, Hollak Carla, van Kuilenburg André B. P., Vaz Frédéric M., Svarstad Einar Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease Clinical journal of the American Society of Nephrology 2017;12 (9):1470-1479 [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.)
  • Demirdas Serwet, van Spronsen Francjan J., Hollak Carla E. M., van der Lee J. Hanneke, Bisschop Peter H., Vaz Fred M., ter Horst Nienke M., Rubio-Gozalbo M. Estela, Bosch Annet M. Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria Annals of nutrition & metabolism 2017;70 (2):111-121 [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]
  • McNamara Robert K., Szeszko Philip R., Smesny Stefan, Ikuta Toshikazu, DeRosse Pamela, Vaz Frédéric M., Milleit Berko, Hipler Uta-Christina, Wiegand Cornelia, Hesse Jana, Paul Amminger G., Malhotra Anil K., Peters Bart D. Polyunsaturated fatty acid biostatus, phospholipase A2 activity and brain white matter microstructure across adolescence Neuroscience 2017;343:423-433 [PubMed]
  • Heiner-Fokkema M. Rebecca, Vaz Frédéric M., Maatman Ronald, Kluijtmans Leo A. J., van Spronsen Francjan J., Reijngoud Dirk-Jan Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles JIMD reports 2017;32:33-39 [PubMed]
  • Arends Maarten, Biegstraaten Marieke, Hughes Derralynn A., Mehta Atul, Elliott Perry M., Oder Daniel, Watkinson Oliver T., Vaz Frédéric M., van Kuilenburg André B. P., Wanner Christoph, Hollak Carla E. M. Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors PLoS ONE 2017;12 (8):e0182379 [PubMed]
  • Huang Yan, Powers Corey, Moore Victoria, Schafer Caitlin, Ren Mindong, Phoon Colin K. L., James Jeanne F., Glukhov Alexander V., Javadov Sabzali, Vaz Frédéric M., Jefferies John L., Strauss Arnold W., Khuchua Zaza The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome Orphanet journal of rare diseases 2017;12 (1):49 [PubMed]
  • Tebani Abdellah, Schmitz-Afonso Isabelle, Abily-Donval Lenaig, Héron Bénédicte, Piraud Monique, Ausseil Jérôme, Brassier Anais, de Lonlay Pascale, Zerimech Farid, Vaz Frédéric M., Gonzalez Bruno J., Marret Stephane, Afonso Carlos, Bekri Soumeya Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling Clinica chimica acta; international journal of clinical chemistry 2017;475:7-14 [PubMed]

2016

  • Figueiredo T., Melo U. S., Pessoa A. L. S., Nobrega P. R., Kitajima J. P., Rusch H., Vaz F., Lucato L. T., Zatz M., Kok F., Santos S. A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability Molecular psychiatry 2016;21 (8):1125-1129 [PubMed]
  • Thiels Charlotte, Fleger Martin, Huemer Martina, Rodenburg Richard J., Vaz Frederic M., Houtkooper Riekelt H., Haack Tobias B., Prokisch Holger, Feichtinger René G., Lücke Thomas, Mayr Johannes A., Wortmann Saskia B. Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? JIMD reports 2016;29:89-93 [PubMed]
  • Potze L., Di Franco S., Grandela C., Pras-Raves M. L., Picavet D. I., van Veen H. A., van Lenthe H., Mullauer F. B., van der Wel N. N., Luyf A., van Kampen A. H. C., Kemp S., Everts V., Kessler J. H., Vaz F. M., Medema J. P. Betulinic acid induces a novel cell death pathway that depends on cardiolipin modification Oncogene 2016;35 (4):427-437 [PubMed]
  • van de Beek Malu-Clair, Dijkstra Inge M. E., van Lenthe Henk, Ofman Rob, Goldhaber-Pasillas Dalia, Schauer Nicolas, Schackmann Martin, Engelen-Lee Joo-Yeon, Vaz Frédéric M., Kulik Wim, Wanders Ronald J. A., Engelen Marc, Kemp Stephan C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man PLoS ONE 2016;11 (4):e0154597 [PubMed]
  • Raemy E., Montessuit S., Pierredon S., van Kampen A. H., Vaz F. M., Martinou J.-C. Cardiolipin or MTCH2 can serve as tBID receptors during apoptosis Cell death and differentiation 2016;23 (7):1165-1174 [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]
  • Lu Ya-Wen, Galbraith Laura, Herndon Jenny D., Lu Ya-Lin, Pras-Raves Mia, Vervaart Martin, van Kampen Antoine, Luyf Angela, Koehler Carla M., McCaffery J. Michael, Gottlieb Eyal, Vaz Frederic M., Claypool Steven M. Defining functional classes of Barth syndrome mutation in humans Human molecular genetics 2016;25 (9):1754-1770 [PubMed]
  • Huidekoper Hidde H., Vaz Frédéric M., Verrips Aad, Bosch Annet M. Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment European journal of pediatrics 2016;175 (1):143-146 [PubMed]
  • Vaz Frederic M., Wanders Ronald J. A. Interpretation of Very-Long-Chain Fatty Acids Analysis Resultsin: Carla E.M. Hollak, Robin Lachmann, editors. Inherited Metabolic Disease in Adults: A Clinical Guide. Oxford University Press; 2016. p. 573-575, ISBN 9780199972135
  • Medema Suzanne, Mocking Roel J. T., Koeter Maarten W. J., Vaz Frédéric M., Meijer Carin, de Haan Lieuwe, van Beveren Nico J. M., Kahn René, van Os Jim, Wiersma Durk, Bruggeman Richard, Cahn Wiepke, Myin-Germeys Inez Levels of Red Blood Cell Fatty Acids in Patients With Psychosis, Their Unaffected Siblings, and Healthy Controls Schizophrenia bulletin 2016;42 (2):358-368 [PubMed]
  • 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]
  • Thompson W. Reid, DeCroes Brittany, McClellan Rebecca, Rubens Jessica, Vaz Frédéric M., Kristaponis Kara, Avramopoulos Dimitrios, Vernon Hilary J. New targets for monitoring and therapy in Barth syndrome Genetics in medicine 2016;18 (10):1001-1010 [PubMed]
  • van Beilen Johan, Blohmke Christoph J., Folkerts Hendrik, de Boer Richard, Zakrzewska Anna, Kulik Wim, Vaz Fred M., Brul Stanley, ter Beek Alexander RodZ and PgsA Play Intertwined Roles in Membrane Homeostasis of Bacillus subtilis and Resistance to Weak Organic Acid Stress Frontiers in microbiology 2016;7:1633 [PubMed]
  • Schooneman Marieke G., Houtkooper Riekelt H., Hollak Carla E. M., Wanders Ronald J. A., Vaz Frédéric M., Soeters Maarten R., Houten Sander M. The impact of altered carnitine availability on acylcarnitine metabolism, energy expenditure and glucose tolerance in diet-induced obese mice BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2016;1862 (8):1375-1382 [PubMed]
  • Ferdinandusse Sacha, Ebberink Merel S., Vaz Frédéric M., Waterham Hans R., Wanders Ronald J. A. The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders Journal of inherited metabolic disease 2016;39 (4):531-543 [PubMed]
  • Bleyle Lisa, Huidekoper Hidde H., Vaz Frederic M., Singh Renu, Steiner Robert D., DeBarber Andrea E. Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method Molecular genetics and metabolism reports 2016;7:11-15 [PubMed]
  • Mocking Roel J. T., Figueroa Caroline A., Rive Maria M., Geugies Hanneke, Servaas Michelle N., Assies Johanna, Koeter Maarten W. J., Vaz Frédéric M., Wichers Marieke, van Straalen Jan P., de Raedt Rudi, Bockting Claudi L. H., Harmer Catherine J., Schene Aart H., Ruhé Henricus G. Vulnerability for new episodes in recurrent major depressive disorder: protocol for the longitudinal DELTA-neuroimaging cohort study BMJ open 2016;6 (3):e009510 [PubMed]
  • Ferri L., Dionisi-Vici C., Taurisano R., Vaz F. M., Guerrini R., Morrone A. When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription Clinical genetics 2016;90 (5):461-465 [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

  • Vega Aurélie, Martinot Emmanuelle, Baptissart Marine, de Haze Angélique, Vaz Frederic, Kulik Wim, Damon-Soubeyrand Christelle, Baron Silvère, Caira Françoise, Volle David H. Bile Acid Alters Male Mouse Fertility in Metabolic Syndrome Context PLoS ONE 2015;10 (10):e0139946 [PubMed]
  • Desmurs Marjorie, Foti Michelangelo, Raemy Etienne, Vaz Frédéric Maxime, Martinou Jean-Claude, Bairoch Amos, Lane Lydie C11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilization Molecular and cellular biology 2015;35 (7):1139-1156 [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]
  • Wortmann Saskia B., Ziętkiewicz Szymon, Kousi Maria, Szklarczyk Radek, Haack Tobias B., Gersting Søren W., Muntau Ania C., Rakovic Aleksandar, Renkema G. Herma, Rodenburg Richard J., Strom Tim M., Meitinger Thomas, Rubio-Gozalbo M. Estela, Chrusciel Elzbieta, Distelmaier Felix, Golzio Christelle, Jansen Joop H., van Karnebeek Clara, Lillquist Yolanda, Lücke Thomas, Õunap Katrin, Zordania Riina, Yaplito-Lee Joy, van Bokhoven Hans, Spelbrink Johannes N., Vaz Frédéric M., Pras-Raves Mia, Ploski Rafal, Pronicka Ewa, Klein Christine, Willemsen Michel A. A. P., de Brouwer Arjan P. M., Prokisch Holger, Katsanis Nicholas, Wevers Ron A. CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder American journal of human genetics 2015;96 (2):245-257 [PubMed]
  • Mocking Roel J. T., Verburg Hanka F., Westerink Anne M., Assies Johanna, Vaz Frédéric M., Koeter Maarten W. J., Ruhé Henricus G., Schene Aart H. Fatty acid metabolism and its longitudinal relationship with the hypothalamic-pituitary-adrenal axis in major depression: Associations with prospective antidepressant response Psychoneuroendocrinology 2015;59:1-13 [PubMed]
  • Ferri Lorenzo, Donati Maria A., Funghini Silvia, Cavicchi Catia, Pensato Viviana, Gellera Cinzia, Natacci Federica, Spaccini Luigina, Gasperini Serena, Vaz Frédéric M., Cooper David N., Guerrini Renzo, Morrone Amelia Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome European journal of human genetics 2015;23 (12):1708-1712 [PubMed]
  • Potze Lisette Mechanisms of Betulinic acid-induced cell death 2015. 199p. ISBN 9789462992016. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Medema J. P.; Co-supervisors: Kessler J. H., Vaz F. M.)
  • Cadalbert Laurence C., Ghaffar Farah Naz, Stevenson David, Bryson Sheila, Vaz Frédéric M., Gottlieb Eyal, Strathdee Douglas Mouse Tafazzin Is Required for Male Germ Cell Meiosis and Spermatogenesis PLoS ONE 2015;10 (6):e0131066 [PubMed]
  • Vaz Frédéric M., Pras-Raves Mia, Bootsma Albert H., van Kampen Antoine H. C. Principles and practice of lipidomics Journal of inherited metabolic disease 2015;38 (1):41-52 [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

  • Ye Cunqi, Lou Wenjia, Li Yiran, Chatzispyrou Iliana A., Hüttemann Maik, Lee Icksoo, Houtkooper Riekelt H., Vaz Frédéric M., Chen Shuliang, Greenberg Miriam L. Deletion of the cardiolipin-specific phospholipase Cld1 rescues growth and life span defects in the tafazzin mutant: implications for Barth syndrome Journal of biological chemistry 2014;289 (6):3114-3125 [PubMed]
  • Vlaardingerbroek Hester, Vermeulen Marijn J., Carnielli Virgilio P., Vaz Frédéric M., van den Akker Chris H. P., van Goudoever Johannes B. Growth and fatty acid profiles of VLBW infants receiving a multicomponent lipid emulsion from birth Journal of pediatric gastroenterology and nutrition 2014;58 (4):417-427 [PubMed]
  • Wang Gang, McCain Megan L., Yang Luhan, He Aibin, Pasqualini Francesco Silvio, Agarwal Ashutosh, Yuan Hongyan, Jiang Dawei, Zhang Donghui, Zangi Lior, Geva Judith, Roberts Amy E., Ma Qing, Ding Jian, Chen Jinghai, Wang Da-Zhi, Li Kai, Wang Jiwu, Wanders Ronald J. A., Kulik Wim, Vaz Frédéric M., Laflamme Michael A., Murry Charles E., Chien Kenneth R., Kelley Richard I., Church George M., Parker Kevin Kit, Pu William T. Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies Nature medicine 2014;20 (6):616-623 [PubMed]

2013

  • Schooneman Marieke G., Vaz Frédéric M., Houten Sander M., Soeters Maarten R. Acylcarnitines: reflecting or inflicting insulin resistance? Diabetes 2013;62 (1):1-8 [PubMed]
  • Gonzalvez François, D'Aurelio Marilena, Boutant Marie, Moustapha Aoula, Puech Jean-Philippe, Landes Thomas, Arnauné-Pelloquin Laeticia, Vial Guillaume, Taleux Nellie, Slomianny Christian, Wanders Ronald J., Houtkooper Riekelt H., Bellenguer Pascale, Møller Ian Max, Gottlieb Eyal, Vaz Frederic M., Manfredi Giovanni, Petit Patrice X. Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2013;1832 (8):1194-1206 [PubMed]
  • Dudek Jan, Cheng I.-Fen, Balleininger Martina, Vaz Frédéric M., Streckfuss-Bömeke Katrin, Hübscher Daniela, Vukotic Milena, Wanders Ronald J. A., Rehling Peter, Guan Kaomei Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome Stem cell research 2013;11 (2):806-819 [PubMed]
  • Langereis E. J., van den Berg I. E. T., Halley D. J. J., Poorthuis B. J. H. M., Vaz F. M., Wokke J. H. J., Linthorst G. E. Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process JIMD reports 2013;9:117-120 [PubMed]
  • Jans Judith J., de Sain-van der Velden Monique G. M., van Hasselt Peter M., van den Hurk Dorine T. A. M., Vaz Frederic M., Visser Gepke, Verhoeven-Duif Nanda M. Supplementation with a powdered blend of PUFAs normalizes DHA and AA levels in patients with PKU Molecular genetics and metabolism 2013;109 (2):121-124 [PubMed]

2012

  • Celestino-Soper Patrícia B. S., Violante Sara, Crawford Emily L., Luo Rui, Lionel Anath C., Delaby Elsa, Cai Guiqing, Sadikovic Bekim, Lee Kwanghyuk, Lo Charlene, Gao Kun, Person Richard E., Moss Timothy J., German Jennifer R., Huang Ni, Shinawi Marwan, Treadwell-Deering Diane, Szatmari Peter, Roberts Wendy, Fernandez Bridget, Schroer Richard J., Stevenson Roger E., Buxbaum Joseph D., Betancur Catalina, Scherer Stephen W., Sanders Stephan J., Geschwind Daniel H., Sutcliffe James S., Hurles Matthew E., Wanders Ronald J. A., Shaw Chad A., Leal Suzanne M., Cook Edwin H., Goin-Kochel Robin P., Vaz Frédéric M., Beaudet Arthur L. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism Proceedings of the National Academy of Sciences of the United States of America 2012;109 (21):7974-7981 [PubMed]
  • Saini-Chohan Harjot K., Mitchell Ryan W., Vaz Frédéric M., Zelinski Teresa, Hatch Grant M. Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders Journal of lipid research 2012;53 (1):4-27 [PubMed]
  • Wortmann Saskia B., Vaz Frédéric M., Gardeitchik Thatjana, Vissers Lisenka E. L. M., Renkema G. Herma, Schuurs-Hoeijmakers Janneke H. M., Kulik Wim, Lammens Martin, Christin Christin, Kluijtmans Leo A. J., Rodenburg Richard J., Nijtmans Leo G. J., Grünewald Anne, Klein Christine, Gerhold Joachim M., Kozicz Tamas, van Hasselt Peter M., Harakalova Magdalena, Kloosterman Wigard, Barić Ivo, Pronicka Ewa, Ucar Sema Kalkan, Naess Karin, Singhal Kapil K., Krumina Zita, Gilissen Christian, van Bokhoven Hans, Veltman Joris A., Smeitink Jan A. M., Lefeber Dirk J., Spelbrink Johannes N., Wevers Ron A., Morava Eva, de Brouwer Arjan P. M. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness Nature genetics 2012;44 (7):797-U231 [PubMed]
  • Makaryan Vahagn, Kulik Willem, Vaz Frederic M., Allen Christopher, Dror Yigal, Dale David C., Aprikyan Andrew A. The cellular and molecular mechanisms for neutropenia in Barth syndrome European journal of haematology 2012;88 (3):195-209 [PubMed]

2011

  • Schug Z. T., Gonzalvez F., Houtkooper R. H., Vaz F. M., Gottlieb E. BID is cleaved by caspase-8 within a native complex on the mitochondrial membrane Cell death and differentiation 2011;18 (3):538-548 [PubMed]
  • Acehan Devrim, Vaz Frederic, Houtkooper Riekelt H., James Jeanne, Moore Vicky, Tokunaga Chonan, Kulik Willem, Wansapura Janaka, Toth Matthew J., Strauss Arnold, Khuchua Zaza Cardiac and Skeletal Muscle Defects in a Mouse Model of Human Barth Syndrome Journal of biological chemistry 2011;286 (2):899-908 [PubMed]

2010

  • Strijbis Karin, Vaz Frédéric M., Distel Ben Enzymology of the Carnitine Biosynthesis Pathway IUBMB life 2010;62 (5):357-362 [PubMed]
  • Michot Caroline, Hubert Laurence, Brivet Michèle, de Meirleir Linda, Valayannopoulos Vassili, Müller-Felber Wolfgang, Venkateswaran Ramesh, Ogier Hélène, Desguerre Isabelle, Altuzarra Cécilia, Thompson Elizabeth, Smitka Martin, Huebner Angela, Husson Marie, Horvath Rita, Chinnery Patrick, Vaz Frederic M., Munnich Arnold, Elpeleg Orly, Delahodde Agnès, de Keyzer Yves, de Lonlay Pascale LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood Human mutation 2010;31 (7):E1564-E1573 [PubMed]
  • Zaltsman Yehudit, Shachnai Liat, Yivgi-Ohana Natalie, Schwarz Michal, Maryanovich Maria, Houtkooper Riekelt H., Vaz Frédéric Maxime, de Leonardis Francesco, Fiermonte Giuseppe, Palmieri Ferdinando, Gillissen Bernhard, Daniel Peter T., Jimenez Erin, Walsh Susan, Koehler Carla M., Roy Soumya Sinha, Walter Ludivine, Hajnóczky György, Gross Atan MTCH2/MIMP is a major facilitator of tBID recruitment to mitochondria Nature cell biology 2010;12 (6):553-562 [PubMed]
  • Xu Fred Y., McBride Heidi, Acehan Devrim, Vaz Frédéric M., Houtkooper Riekelt H., Lee Raymond M., Mowat Michael A., Hatch Grant M. The dynamics of cardiolipin synthesis post-mitochondrial fusion BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES 2010;1798 (8):1577-1585 [PubMed]

2009

  • Houtkooper Riekelt H., Rodenburg Richard J., Thiels Charlotte, van Lenthe Henk, Stet Femke, Poll-The Bwee Tien, Stone Janet E., Steward Colin G., Wanders Ronald J., Smeitink Jan, Kulik Willem, Vaz Frédéric M. Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome Analytical biochemistry 2009;387 (2):230-237 [PubMed]
  • Houtkooper R. H. L. Cardiolipin metabolism in Barth syndrome 2009. 122p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisor: Vaz F. M.)
  • Rijken Pieter J., Houtkooper Riekelt H., Akbari Hana, Brouwers Jos F., Koorengevel Martijn C., de Kruijff Ben, Frentzen Margrit, Vaz Frédéric M., de Kroon Anton I. P. M. Cardiolipin molecular species with shorter acyl chains accumulate in Saccharomyces cerevisiae mutants lacking the acyl coenzyme A-binding protein Acb1p: new insights into acyl chain remodeling of cardiolipin Journal of biological chemistry 2009;284 (40):27609-27619 [PubMed]
  • Acehan Devrim, Khuchua Zaza, Houtkooper Riekelt H., Malhotra Ashim, Kaufman Johanna, Vaz Frédéric M., Ren Mindong, Rockman Howard A., Stokes David L., Schlame Michael Distinct effects of tafazzin deletion in differentiated and undifferentiated mitochondria Mitochondrion 2009;9 (2):86-95 [PubMed]
  • Houtkooper Riekelt H., van Lenthe Henk, Stet Femke S., Wanders Ronald J. A., Kulik Wim, Vaz Frederic M. HPLC-massaspectrometrie voor de diagnose van het Barth-syndroom Analyse (Amsterdam) 2009;64 (7):200-205
  • Strijbis Karin, van Roermund Carlo W. T., Hardy Guy P., van den Burg Janny, Bloem Karien, de Haan Jolanda, van Vlies Naomi, Wanders Ronald J. A., Vaz Frédéric M., Distel Ben Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicans FASEB journal 2009;23 (8):2349-2359 [PubMed]
  • Houtkooper Riekelt H., Turkenburg Marjolein, Poll-The Bwee Tien, Karall Daniela, Pérez-Cerdá Celia, Morrone Amelia, Malvagia Sabrina, Wanders Ronald J., Kulik Willem, Vaz Frédéric M. The enigmatic role of tafazzin in cardiolipin metabolism BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES 2009;1788 (10):2003-2014 [PubMed]

2008

  • Kulik Willem, van Lenthe Henk, Stet Femke S., Houtkooper Riekelt H., Kemp Helena, Stone Janet E., Steward Colin G., Wanders Ronald J., Vaz Frédéric M. Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome Clinical chemistry 2008;54 (2):371-378 [PubMed]
  • Gonzalvez Francois, Schug Zachary T., Houtkooper Riekelt H., Mackenzie Elaine D., Brooks David G., Wanders Ronald J. A., Petit Patrice X., Vaz Frédéric M., Gottlieb Eyal Cardiolipin provides an essential activating platform for caspase-8 on mitochondria Journal of cell biology 2008;183 (4):681-696 [PubMed]
  • Houtkooper R. H., Vaz F. M. Cardiolipin, the heart of mitochondrial metabolism Cellular and molecular life sciences 2008;65 (16):2493-2506 [PubMed]
  • Zeharia Avraham, Shaag Avraham, Houtkooper Riekelt H., Hindi Tareq, de Lonlay Pascale, Erez Gilli, Hubert Laurence, Saada Ann, de Keyzer Yves, Eshel Gideon, Vaz Frédéric M., Pines Ophry, Elpeleg Orly Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood American journal of human genetics 2008;83 (4):489-494 [PubMed]

2007

  • van Vlies Naomi, Ruiter Jos P. N., Doolaard Mirjam, Wanders Ronald J. A., Vaz Frédéric M. An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometry Molecular genetics and metabolism 2007;90 (1):24-29 [PubMed]
  • 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]
  • van Vlies N. New insights in the biosynthesis and metabolism of cartine 2007. 104p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders Ronald J. A.; Co-supervisor: Vaz F. M.)
  • 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]
  • van Vlies Naomi, Ofman Rob, Wanders Ronald J. A., Vaz Frédéric M. Submitochondrial localization of 6-N-trimethyllysine dioxygenase - implications for carnitine biosynthesis FEBS journal 2007;274 (22):5845-5851 [PubMed]

2006

  • Houtkooper Riekelt H., Akbari Hana, van Lenthe Henk, Kulik Willem, Wanders Ronald J. A., Frentzen Margrit, Vaz Frédéric M. Identification and characterization of human cardiolipin synthase FEBS letters 2006;580 (13):3059-3064 [PubMed]
  • Oey N. A., van Vlies N., Wijburg F. A., Wanders R. J. A., Attie-Bitach T., Vaz F. M. L-carnitine is synthesized in the human fetal-placental unit: potential roles in placental and fetal metabolism Placenta 2006;27 (8):841-846 [PubMed]
  • van Vlies Naomi, Wanders Ronald J. A., Vaz Frédéric M. Measurement of carnitine biosynthesis enzyme activities by tandem mass spectrometry: differences between the mouse and the rat Analytical biochemistry 2006;354 (1):132-139 [PubMed]
  • Huidekoper H. H., Schneider J., Westphal T., Vaz F. M., Duran M., Wijburg F. A. Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency Journal of inherited metabolic disease 2006;29 (5):631-636 [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]
  • van Vlies Naomi, Tian Liqun, Overmars Henk, Bootsma Albert H., Kulik Willem, Wanders Ronald J. A., Wood Philip A., Vaz Frédéric M. Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse Biochemical journal 2005;387 (Part 1):185-193 [PubMed]
  • Monfregola Jlenia, Cevenini Armando, Terracciano Antonio, van Vlies Naomi, Arbucci Salvatore, Wanders Ronald J. A., D'Urso Michele, Vaz Frédéric M., Ursini Matilde Valeria Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting Journal of cellular physiology 2005;204 (3):839-847 [PubMed]
  • Valianpour Fredoen, Mitsakos Voula, Schlemmer Dimitri, Towbin Jeffrey A., Taylor Juliet M., Ekert Paul G., Thorburn David R., Munnich Arnold, Wanders Ronald J. A., Barth Peter G., Vaz Frédéric M. Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis Journal of lipid research 2005;46 (6):1182-1195 [PubMed]
  • Spiekerkoetter Ute, Tokunaga Chonan, Wendel Udo, Mayatepek Ertan, Ijlst Lodewijk, Vaz Frederic M., van Vlies Naomi, Overmars Henk, Duran Marinus, Wijburg Frits A., Wanders Ronald J., Strauss Arnold W. Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice Pediatric research 2005;57 (6):760-764 [PubMed]

2004

  • Gu Zhiming, Valianpour Fredoen, Chen Shuliang, Vaz Frederic M., Hakkaart Gertjan A., Wanders Ronald J. A., Greenberg Miriam L. Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome Molecular microbiology 2004;51 (1):149-158 [PubMed]
  • Ma Lining, Vaz Frederic M., Gu Zhiming, Wanders Ronald J. A., Greenberg Miriam L. The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome Journal of biological chemistry 2004;279 (43):44394-44399 [PubMed]
  • Barth Peter G., Valianpour Fredoen, Bowen Valerie M., Lam Jan, Duran Marinus, Vaz Frédéric M., Wanders Ronald J. A. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update American journal of medical genetics. Part A 2004;126A (4):349-354 [PubMed]

2003

  • Valianpour F., Wanders R. J. A., Overmars H., Vaz F. M., Barth P. G., van Gennip A. H. Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment Journal of lipid research 2003;44 (3):560-566 [PubMed]
  • Vaz Frédéric M., Houtkooper Riekelt H., Valianpour Fredoen, Barth Peter G., Wanders Ronald J. A. Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism Journal of biological chemistry 2003;278 (44):43089-43094 [PubMed]

2002

  • Vaz Frédéric M., Melegh Bela, Bene Judit, Cuebas Dean, Gage Douglas A., Bootsma Albert, Vreken Peter, van Gennip Albert H., Bieber Loran L., Wanders Ronald J. A. Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry Clinical chemistry 2002;48 (6 Part 1):826-834 [PubMed]
  • Vaz Frédéric M., Wanders Ronald J. A. Carnitine biosynthesis in mammals Biochemical journal 2002;361 (Part 3):417-429 [PubMed]
  • Swiegers Jan H., Vaz Frédéric M., Pretorius Isak S., Wanders Ronald J. A., Bauer Florian F. Carnitine biosynthesis in Neurospora crassa: identification of a cDNA coding for epsilon-N-trimethyllysine hydroxylase and its functional expression in Saccharomyces cerevisiae FEMS microbiology letters 2002;210 (1):19-23 [PubMed]
  • Rahbeeni Z., Vaz F. M., Al-Hussein K., Bucknall M. P., Ruiter J., Wanders R. J., Rashed M. S. Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency Journal of inherited metabolic disease 2002;25 (5):363-369 [PubMed]
  • Vaz F. M. Molecular and biochemical aspects of carnitine biosynthesis 2002. 112p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.)

2001

  • Vaz F. M., Ofman R., Westinga K., Back J. W., Wanders R. J. Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis Journal of biological chemistry 2001;276 (36):33512-33517 [PubMed]

2000

  • Vaz F. M., Fouchier S. W., Ofman R., Sommer M., Wanders R. J. Molecular and biochemical characterization of rat gamma-trimethylaminobutyraldehyde dehydrogenase and evidence for the involvement of human aldehyde dehydrogenase 9 in carnitine biosynthesis Journal of biological chemistry 2000;275 (10):7390-7394 [PubMed]

1999

  • Vaz F. M., van Gool S., Ofman R., IJlst L., Wanders R. J. Carnitine biosynthesis. Purification of gamma-butyrobetaine hydroxylase from rat liver Advances in experimental medicine and biology 1999;466:117-124 [PubMed]
  • Vaz F. M., Scholte H. R., Ruiter J., Hussaarts-Odijk L. M., Pereira R. R., Schweitzer S., de Klerk J. B., Waterham H. R., Wanders R. J. Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency Human genetics 1999;105 (1-2):157-161 [PubMed]

1998

  • Vaz F. M., van Gool S., Ofman R., IJlst L., Wanders R. J. Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase Biochemical and biophysical research communications 1998;250 (2):506-510 [PubMed]
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