Works by Vaz, Frédéric M.

Results: 70

A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. 1899, doi. 10.1002/humu.23839
By:
- Ferdinandusse, Sacha;
- te Brinke, Heleen;
- Ruiter, Jos P.N.;
- Haasjes, Janet;
- Oostheim, Wendy;
- Lenthe, Henk;
- IJlst, Lodewijk;
- Ebberink, Merel S.;
- Wanders, Ronald J.A.;
- Vaz, Frédéric M.;
- Waterham, Hans R.
Publication type:
Article
Meijer and Vloedman's histochemical demonstration of mitochondrial coupling obeys Lambert-Beer's law in the myocardium.
Published in:
Histochemistry & Cell Biology, 2019, v. 151, n. 1, p. 85, doi. 10.1007/s00418-018-1716-3
By:
- Peters, Eva L.;
- Comerford, David;
- Vaz, Frédéric M.;
- van der Laarse, Willem J.
Publication type:
Article
Lipidomics in Non-alcoholic Fatty Liver Disease: Exploring Serum Lipids as Biomarkers for Pediatric NAFLD.
Published in:
2020
By:
- 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.
Publication type:
journal article
Growth and Fatty Acid Profiles of VLBW Infants Receiving a Multicomponent Lipid Emulsion From Birth.
Published in:
2014
By:
- Vlaardingerbroek, Hester;
- Vermeulen, Marijn J;
- Carnielli, Virgilio P;
- Vaz, Frédéric M;
- van den Akker, Chris H P;
- van Goudoever, Johannes B
Publication type:
Journal Article
ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 157, doi. 10.1002/ajmg.a.61936
By:
- 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.
Publication type:
Article
Delayed appearance of 3‐methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 64, doi. 10.1002/ajmg.a.61383
By:
- 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
Publication type:
Article
Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicans.
Published in:
FASEB Journal, 2009, v. 23, n. 8, p. 2349, doi. 10.1096/fj.08-127985
By:
- Strijbis, Karin;
- van Roermund, Carlo W. T.;
- Hardy, Guy P.;
- van den Burg, Janny;
- Bloem, Karien;
- de Haan, Jolanda;
- van Vlies, Naomi;
- A. Wanders, Ronald J.;
- Vaz, Frédéric M.;
- Distel, Ben
Publication type:
Article
The Association of Acylcarnitines and Amino Acids With Age in Dutch and South-Asian Surinamese Living in Amsterdam.
Published in:
2018
By:
- Muilwijk, Mirthe;
- Vaz, Frédéric M;
- Celis-Morales, Carlos;
- Peters, Ron J G;
- van Valkengoed, Irene G M
Publication type:
journal article
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
By:
- Alabdulrazzaq, Fatima;
- Alanzi, Talal;
- Al‐Balool, Haya H.;
- Gardham, Alice;
- Wakeling, Emma;
- Leitch, Harry G.;
- AlSayed, Moeenaldeen;
- Abdulrahim, Maha;
- Aladwani, Abdulaziz;
- Romito, Antonio;
- Kampe, Kapil;
- Ferdinandusse, Sacha;
- Aboelanine, Ashraf H.;
- Abdullah, Amira;
- Alwadani, Amal;
- Bastaki, Laila;
- Vaz, Frédéric M.;
- Bertoli‐Avella, Aida M.;
- Marafi, Dana
Publication type:
Article
Identification of Metabolic Biomarkers in Relation to Methotrexate Response in Early Rheumatoid Arthritis.
Published in:
Journal of Personalized Medicine, 2020, v. 10, n. 4, p. 271, doi. 10.3390/jpm10040271
By:
- Gosselt, Helen R.;
- Muller, Ittai B.;
- Jansen, Gerrit;
- van Weeghel, Michel;
- Vaz, Frédéric M.;
- Hazes, Johanna M. W.;
- Heil, Sandra G.;
- de Jonge, Robert
Publication type:
Article
The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03449-7
By:
- Polak, Yasmin;
- van Dussen, Laura;
- Kemper, E. Marleen;
- Vaz, Frédéric M.;
- Klouwer, Femke C. C.;
- Engelen, Marc;
- Hollak, Carla E. M.
Publication type:
Article
The Plasma Lipidomic Landscape in Patients with Sepsis due to Community-acquired Pneumonia.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2024, v. 209, n. 8, p. 973, doi. 10.1164/rccm.202308-1321OC
By:
- Chouchane, Osoul;
- Schuurman, Alex R.;
- Reijnders, Tom D. Y.;
- Peters-Sengers, Hessel;
- Butler, Joe M.;
- Uhel, Fabrice;
- Schultz, Marcus J.;
- Bonten, Marc J.;
- Cremer, Olaf L.;
- Calfee, Carolyn S.;
- Matthay, Michael A.;
- Langley, Raymond J.;
- Alipanah-Lechner, Narges;
- Kingsmore, Stephen F.;
- Rogers, Angela;
- van Weeghel, Michel;
- Vaz, Frédéric M.;
- van der Poll, Tom
Publication type:
Article
Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype.
Published in:
Digestive Diseases, 2017, v. 35, n. 3, p. 259, doi. 10.1159/000450984
By:
- Vaz, Frédéric M.;
- Huidekoper, Hidde H.;
- Paulusma, Coen C.
Publication type:
Article
Work and oxygen consumption of isolated right ventricular papillary muscle in experimental pulmonary hypertension.
Published in:
Journal of Physiology, 2022, v. 600, n. 20, p. 4465, doi. 10.1113/JP282991
By:
- van der Laarse, Willem J.;
- Bogaards, Sylvia J. P.;
- Schalij, Ingrid;
- Noordegraaf, Anton Vonk;
- Vaz, Frédéric M.;
- van Groen, Duncan
Publication type:
Article
Cell Type-Selective Loss of Peroxisomal β-Oxidation Impairs Bipolar Cell but Not Photoreceptor Survival in the Retina.
Published in:
Cells (2073-4409), 2022, v. 11, n. 1, p. 161, doi. 10.3390/cells11010161
By:
- Swinkels, Daniëlle;
- Das, Yannick;
- Kocherlakota, Sai;
- Vinckier, Stefan;
- Wever, Eric;
- van Kampen, Antoine H.C.;
- Vaz, Frédéric M.;
- Baes, Myriam
Publication type:
Article
The effect of mirabegron on energy expenditure and brown adipose tissue in healthy lean South Asian and Europid men.
Published in:
Diabetes, Obesity & Metabolism, 2020, v. 22, n. 11, p. 2032, doi. 10.1111/dom.14120
By:
- 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
Publication type:
Article
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
Published in:
Genes, 2021, v. 12, n. 12, p. 1930, doi. 10.3390/genes12121930
By:
- van de Stadt, Stephanie I. W.;
- Mooyer, Petra A. W.;
- Dijkstra, Inge M. E.;
- Dekker, Conny J. M.;
- Vats, Divya;
- Vera, Moin;
- Ruzhnikov, Maura R. Z.;
- van Haren, Keith;
- Tang, Nelson;
- Koop, Klaas;
- Willemsen, Michel A.;
- Hui, Joannie;
- Vaz, Frédéric M.;
- Ebberink, Merel S.;
- Engelen, Marc;
- Kemp, Stephan;
- Ferdinandusse, Sacha
Publication type:
Article
Plasma Lipidomic Profiles in cART-Treated Adolescents with Perinatally Acquired HIV Compared to Matched Controls.
Published in:
Viruses (1999-4915), 2024, v. 16, n. 4, p. 580, doi. 10.3390/v16040580
By:
- van der Post, Julie;
- Guerra, Thiara E. J.;
- van den Hof, Malon;
- Vaz, Frédéric M.;
- Pajkrt, Dasja;
- van Genderen, Jason G.
Publication type:
Article
Indoleamine 2,3‐dioxygenase (IDO)‐1 and IDO‐2 activity and severe course of COVID‐19.
Published in:
Journal of Pathology, 2022, v. 256, n. 3, p. 256, doi. 10.1002/path.5842
By:
- Guo, Lihui;
- Schurink, Bernadette;
- Roos, Eva;
- Nossent, Esther J;
- Duitman, Jan Willem;
- Vlaar, Alexander PJ;
- van der Valk, Paul;
- Vaz, Frédéric M;
- Yeh, Syun‐Ru;
- Geeraerts, Zachary;
- Dijkhuis, Annemiek;
- van Vught, Lonneke;
- Bugiani, Marianna;
- Lutter, René
Publication type:
Article
Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 70, doi. 10.1002/jmd2.12186
By:
- Coene, Karlien L. M.;
- Timmer, Corrie;
- Goorden, Susan M. I.;
- Hoedt, Amber E.;
- Kluijtmans, Leo A. J.;
- Janssen, Mirian C. H.;
- Rennings, Alexander J. M.;
- Prinsen, Hubertus C. M. T.;
- Wamelink, Mirjam M. C.;
- Ruijter, George J. G.;
- Körver‐Keularts, Irene M. L. W.;
- Heiner‐Fokkema, M. Rebecca;
- Spronsen, Francjan J.;
- Hollak, Carla E.;
- Vaz, Frédéric M.;
- Bosch, Annet M.;
- Huigen, Marleen C. D. G.
Publication type:
Article
Neonatal carnitine concentrations in relation to gestational age and weight.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 95, doi. 10.1002/jmd2.12162
By:
- Crefcoeur, Loek L.;
- 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.
Publication type:
Article
A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 79, doi. 10.1002/jmd2.12118
By:
- Václavík, Jan;
- Mádrová, Lucie;
- Kouřil, Štěpán;
- de Sousa, Julie;
- Brumarová, Radana;
- Janečková, Hana;
- Jáčová, Jaroslava;
- Friedecký, David;
- Knapková, Mária;
- Kluijtmans, Leo A. J.;
- Grünert, Sarah C.;
- Vaz, Frédéric M.;
- Janzen, Nils;
- Wanders, Ronald J. A.;
- Wevers, Ron A.;
- Adam, Tomáš
Publication type:
Article
C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man.
Published in:
PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0154597
By:
- 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
Publication type:
Article
Mouse Tafazzin Is Required for Male Germ Cell Meiosis and Spermatogenesis.
Published in:
PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0131066
By:
- Cadalbert, Laurence C.;
- Ghaffar, Farah Naz;
- Stevenson, David;
- Bryson, Sheila;
- Vaz, Frédéric M.;
- Gottlieb, Eyal;
- Strathdee, Douglas
Publication type:
Article
Reduced ech-6 expression attenuates fat-induced lifespan shortening in C. elegans.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-07397-9
By:
- Liu, Yasmine J.;
- Gao, Arwen W.;
- Smith, Reuben L.;
- Janssens, Georges E.;
- Panneman, Daan M.;
- Jongejan, Aldo;
- van Weeghel, Michel;
- Vaz, Frédéric M.;
- Silvestrini, Melissa J.;
- Lapierre, Louis R.;
- MacInnes, Alyson W.;
- Houtkooper, Riekelt H.
Publication type:
Article
Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06479-y
By:
- Blankestijn, Maaike;
- Bloks, Vincent W.;
- Struik, Dicky;
- Huijkman, Nicolette;
- Kloosterhuis, Niels;
- Wolters, Justina C.;
- Wanders, Ronald J. A.;
- Vaz, Frédéric M.;
- Islinger, Markus;
- Kuipers, Folkert;
- van de Sluis, Bart;
- Groen, Albert K.;
- Verkade, Henkjan J.;
- Jonker, Johan W.
Publication type:
Article
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).
Published in:
Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1206106
By:
- Ferreira, Elise A.;
- Buijs, Mark J. N.;
- Wijngaard, Robin;
- Daams, Joost G.;
- Datema, Mareen R.;
- Engelen, Marc;
- van Karnebeek, Clara D. M.;
- Oud, Machteld M.;
- Vaz, Frédéric M.;
- Wamelink, Mirjam M. C.;
- van der Crabben, Saskia N.;
- Langeveld, Mirjam
Publication type:
Article
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1708, doi. 10.1038/ejhg.2015.50
By:
- 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
Publication type:
Article
Identification and characterization of human cardiolipin synthase
Published in:
FEBS Letters, 2006, v. 580, n. 13, p. 3059, doi. 10.1016/j.febslet.2006.04.054
By:
- Houtkooper, Riekelt H.;
- Akbari, Hana;
- van Lenthe, Henk;
- Kulik, Willem;
- Wanders, Ronald J.A.;
- Frentzen, Margrit;
- Vaz, Frédéric M.
Publication type:
Article
Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders.
Published in:
2020
By:
- Vaz, Frédéric M;
- McDermott, John H;
- Engelen, Marc;
- Banka, Siddharth
Publication type:
Letter
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Published in:
2019
By:
- Vaz, Frédéric M;
- McDermott, John H;
- Alders, Mariëlle;
- Wortmann, Saskia B;
- Kölker, Stefan;
- Pras-Raves, Mia L;
- Vervaart, Martin A T;
- Lenthe, Henk van;
- Luyf, Angela C M;
- Elfrink, Hyung L;
- Metcalfe, Kay;
- Cuvertino, Sara;
- Clayton, Peter E;
- Yarwood, Rebecca;
- Lowe, Martin P;
- Lovell, Simon;
- Rogers, Richard C;
- Study, Deciphering Developmental Disorders;
- Kampen, Antoine H C van;
- Ruiter, Jos P N
Publication type:
journal article
Tracer‐based lipidomics enables the discovery of disease‐specific candidate biomarkers in mitochondrial β‐oxidation disorders.
Published in:
FASEB Journal, 2024, v. 38, n. 4, p. 1, doi. 10.1096/fj.202302163R
By:
- Schwantje, Marit;
- Mosegaard, Signe;
- Knottnerus, Suzan J. G.;
- van Klinken, Jan Bert;
- Wanders, Ronald J.;
- van Lenthe, Henk;
- Hermans, Jill;
- IJlst, Lodewijk;
- Denis, Simone W.;
- Jaspers, Yorrick R. J.;
- Fuchs, Sabine A.;
- Houtkooper, Riekelt H.;
- Ferdinandusse, Sacha;
- Vaz, Frédéric M.
Publication type:
Article
Time‐restricted feeding during the inactive phase abolishes the daily rhythm in mitochondrial respiration in rat skeletal muscle.
Published in:
FASEB Journal, 2022, v. 36, n. 2, p. 1, doi. 10.1096/fj.202100707R
By:
- de Goede, Paul;
- Wüst, Rob C. I.;
- Schomakers, Bauke V.;
- Denis, Simone;
- Vaz, Frédéric M.;
- Pras‐Raves, Mia L.;
- van Weeghel, Michel;
- Yi, Chun‐Xia;
- Kalsbeek, Andries;
- Houtkooper, Riekelt H.
Publication type:
Article
Circadian misalignment disturbs the skeletal muscle lipidome in healthy young men.
Published in:
FASEB Journal, 2021, v. 35, n. 6, p. 1, doi. 10.1096/fj.202100143R
By:
- Harmsen, Jan-Frieder;
- van Polanen, Nynke;
- van Weeghel, Michel;
- Wefers, Jakob;
- Hoeks, Joris;
- Vaz, Frédéric M.;
- Pras-Raves, Mia L.;
- van Kampen, Antoine H. C.;
- Schaart, Gert;
- van Moorsel, Dirk;
- Hansen, Jan;
- Hesselink, Matthijs K. C.;
- Houtkooper, Riekelt H.;
- Schrauwen, Patrick
Publication type:
Article
Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.
Published in:
FASEB Journal, 2019, v. 33, n. 3, p. 4355, doi. 10.1096/fj.201801498R
By:
- Violante, Sara;
- Achetib, Nihad;
- van Roermund, Carlo W. T.;
- Hagen, Jacob;
- Dodatko, Tetyana;
- Vaz, Frédéric M.;
- Waterham, Hans R.;
- Hongjie Chen;
- Baes, Myriam;
- Chunli Yu;
- Argmann, Carmen A.;
- Houten, Sander M.
Publication type:
Article
The plasma kynurenine-to-tryptophan ratio as a biomarker of tuberculosis disease in people living with HIV on antiretroviral therapy: an exploratory nested case–control study.
Published in:
BMC Infectious Diseases, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12879-024-09258-4
By:
- Gatechompol, Sivaporn;
- Lutter, René;
- Vaz, Frédéric M.;
- Ubolyam, Sasiwimol;
- Avihingsanon, Anchalee;
- Kerr, Stephen J.;
- van Leth, Frank;
- Cobelens, Frank
Publication type:
Article
Cardiolipin provides an essential activating platform for caspase-8 on mitochondria.
Published in:
Journal of Cell Biology, 2008, v. 183, n. 4, p. 681, doi. 10.1083/jcb.200803129
By:
- 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
Publication type:
Article
Plasma oxalate: comparison of methodologies.
Published in:
Urolithiasis, 2020, v. 48, n. 6, p. 473, doi. 10.1007/s00240-020-01197-4
By:
- Stokes, Felicity;
- Acquaviva-Bourdain, Cecile;
- Hoppe, Bernd;
- Lieske, John C.;
- Lindner, Elisabeth;
- Toulson, Greg;
- Vaz, Frédéric M.;
- Rumsby, Gill
Publication type:
Article
Sex differences in the association of sphingolipids with age in Dutch and South-Asian Surinamese living in Amsterdam, the Netherlands.
Published in:
Biology of Sex Differences, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13293-020-00353-0
By:
- Muilwijk, Mirthe;
- Callender, Nardie;
- Goorden, Susan;
- Vaz, Frédéric M.;
- van Valkengoed, Irene G. M.
Publication type:
Article
Enzymology of the carnitine biosynthesis pathway.
Published in:
IUBMB Life, 2010, v. 62, n. 5, p. 357, doi. 10.1002/iub.323
By:
- Strijbis, Karin;
- Vaz, Frédéric M.;
- Distel, Ben
Publication type:
Article
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.
Published in:
PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0182379
By:
- 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.
Publication type:
Article
Clinical and biochemical characterization of four patients with mutations in ECHS1.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0290-1
By:
- Ferdinandusse, Sacha;
- Friederich, Marisa W.;
- Burlina, Alberto;
- Ruiter, Jos P. N.;
- Coughlin II, 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.
Publication type:
Article
Clinical and biochemical characterization of four patients with mutations in ECHS1
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 79, doi. 10.1186/s13023-015-0290-1
By:
- Ferdinandusse, Sacha;
- Friederich, Marisa W.;
- Burlina, Alberto;
- Ruiter, Jos P. N.;
- Coughlin II, 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.
Publication type:
Article
Clinical and biochemical characterization of four patients with mutations in ECHS1.
Published in:
2015
By:
- Ferdinandusse, Sacha;
- Friederich, Marisa W;
- Burlina, Alberto;
- Ruiter, Jos P N;
- Coughlin 2nd, 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;
- Coughlin, Curtis R 2nd
Publication type:
journal article
New clinical and molecular insights on Barth syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-27
By:
- Ferri, Lorenzo;
- Donati, Maria Alice;
- Funghini, Silvia;
- Malvagia, Sabrina;
- Catarzi, Serena;
- Lugli, Licia;
- Ragni, Luca;
- Bertini, Enrico;
- Vaz, Frédéric M.;
- Cooper, David N.;
- Guerrini, Renzo;
- Morrone, Amelia
Publication type:
Article
New clinical and molecular insights on Barth syndrome.
Published in:
2013
By:
- Ferri, Lorenzo;
- Donati, Maria Alice;
- Funghini, Silvia;
- Malvagia, Sabrina;
- Catarzi, Serena;
- Lugli, Licia;
- Ragni, Luca;
- Bertini, Enrico;
- Vaz, Frédéréc M;
- Cooper, David N;
- Guerrini, Renzo;
- Morrone, Amelia;
- Vaz, Frédéric M
Publication type:
journal article
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Published in:
Nature Genetics, 2012, v. 44, n. 7, p. 797, doi. 10.1038/ng.2325
By:
- 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;
- Bari?, Ivo
Publication type:
Article
Acyl‐CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 931, doi. 10.1002/jimd.12642
By:
- Houten, Sander M.;
- Dodatko, Tetyana;
- Dwyer, William;
- Violante, Sara;
- Chen, Hongjie;
- Stauffer, Brandon;
- DeVita, Robert J.;
- Vaz, Frédéric M.;
- Cross, Justin R.;
- Yu, Chunli;
- Leandro, João
Publication type:
Article
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 116, doi. 10.1002/jimd.12571
By:
- Albersen, Monique;
- van der Beek, Samantha L.;
- Dijkstra, Inge M. E.;
- Alders, Mariëlle;
- Barendsen, Rinse W.;
- Bliek, Jet;
- Boelen, Anita;
- Ebberink, Merel S.;
- Ferdinandusse, Sacha;
- Goorden, Susan M. I.;
- Heijboer, Annemieke C.;
- Jansen, Mandy;
- Jaspers, Yorrick R. J.;
- Metgod, Ingrid;
- Salomons, Gajja S.;
- Vaz, Frédéric M.;
- Verschoof‐Puite, Rendelien K.;
- Visser, Wouter F.;
- Dekkers, Eugènie;
- Engelen, Marc
Publication type:
Article
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1094, doi. 10.1002/jimd.12548
By:
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- van Weeghel, Michel;
- Vaz, Frédéric M.;
- Ferdinandusse, Sacha;
- Hollak, Carla E. M.;
- Huidekoper, Hidde H.;
- Janssen, Mirian C. H.;
- van Kuilenburg, André B. P.;
- Pras‐Raves, Mia L.;
- Wamelink, Mirjam M. C.;
- Wanders, Ronald J. A.;
- Welsink‐Karssies, Mendy M.;
- Bosch, Annet M.
Publication type:
Article