Works by Vaz, Frédéric M.

Results: 75

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

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

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

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

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

Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis.

Published in:

Communications Biology, 2020, v. 3, n. 1, p. N.PAG, doi. 10.1038/s42003-020-01442-x

By:

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, Jürgen G.;
Schultz, Christian;
Vaz, Frédéric M.;
Islinger, Markus

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

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

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

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

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

Submitochondrial localization of 6- N-trimethyllysine dioxygenase − implications for carnitine biosynthesis.

Published in:

FEBS Journal, 2007, v. 274, n. 22, p. 5845, doi. 10.1111/j.1742-4658.2007.06108.x

By:

van Vlies, Naomi;
Ofman, Rob;
Wanders, Ronald J. A.;
Vaz, Frédéric M.

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

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

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

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

Levels of Red Blood Cell Fatty Acids in Patients With Psychosis, Their Unaffected Siblings, and Healthy Controls.

Published in:

Schizophrenia Bulletin, 2016, v. 42, n. 2, p. 358, doi. 10.1093/schbul/sbv133

By:

Medema, Suzanne;
Mocking, Roel J. T.;
Koeter, Maarten W. J.;
Vaz, Frédéric M.;
Meijer, Carin;
de Haan, Lieuwe;
van Beveren, Nico J. M.

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

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

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

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.

Published in:

2016

By:

Huidekoper, Hidde;
Vaz, Frédéric;
Verrips, Aad;
Bosch, Annet;
Huidekoper, Hidde H;
Vaz, Frédéric M;
Bosch, Annet M

Publication type:

journal 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

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

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12842

By:

Balfoort, Berith M.;
Van den Broeck, Filip;
Boon, Camiel J. F.;
Brouwers, Martijn C. G. J.;
Diederen, Roselie M. H.;
Dhillon, Preet;
Ten Asbroek, Anneloor L.M.A.;
Bergen, Arthur A.;
Boon, Camiel J.F.;
Brands, Marion M.;
Buijs, Mark J.N.;
Diederen, Roselie M.H.;
Ferdinandusse, Sacha;
Houtkooper, Riekelt H.;
Van Karnebeek, Clara D. M.;
Schultink, Patrick;
Timmer, Corrie;
Vaz, Frédéric M.;
Wagenmakers, Margreet A.E.M.;
Wanders, Ronald J.A.

Publication type:

Article

Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12789

By:

Eskes, Eline C. B.;
van Dussen, Laura;
Brands, Marion M. M. G.;
Vaz, Frédéric M.;
Aerts, Johannes M. F. G.;
van Kuilenburg, André B. P.;
Sjouke, Barbara;
Hollak, Carla E. M.

Publication type:

Article

Mitochondrial membrane synthesis, remodelling and cellular trafficking.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12766

By:

Messina, Martina;
Vaz, Frédéric M.;
Rahman, Shamima

Publication type:

Article

Disorders of fatty acid homeostasis.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12734

By:

Vaz, Frédéric M.;
Ferdinandusse, Sacha;
Salomons, Gajja S.;
Wanders, Ronald J. A.

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:

Hermans, Merel E.;
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

Barth syndrome and the many fascinating aspects of cardiolipin.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 1, doi. 10.1002/jimd.12460

By:

Vaz, Frédéric M.;
Wanders, Ronald J. A.;
Vernon, Hilary

Publication type:

Article

An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 29, doi. 10.1002/jimd.12425

By:

Vaz, Frédéric M.;
van Lenthe, Henk;
Vervaart, Martin A. T.;
Stet, Femke S.;
Klinkspoor, Johanne H.;
Vernon, Hilary J.;
Goorden, Susan M. I.;
Houtkooper, Riekelt H.;
Kulik, Willem;
Wanders, Ronald J. A.

Publication type:

Article

High dose genistein in Sanfilippo syndrome: A randomised controlled trial.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1248, doi. 10.1002/jimd.12407

By:

Ghosh, Arunabha;
Rust, Stewart;
Langford‐Smith, Kia;
Weisberg, Daniel;
Canal, Maria;
Breen, Catherine;
Hepburn, Michelle;
Tylee, Karen;
Vaz, Frédéric M.;
Vail, Andy;
Wijburg, Frits;
O'Leary, Claire;
Parker, Helen;
Wraith, J. Ed;
Bigger, Brian W.;
Jones, Simon A.

Publication type:

Article

Inherited disorders of complex lipid metabolism: A clinical review.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 809, doi. 10.1002/jimd.12369

By:

Xiao, Changrui;
Rossignol, Francis;
Vaz, Frédéric M.;
Ferreira, Carlos R.

Publication type:

Article

Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 926, doi. 10.1002/jimd.12365

By:

Rijt, Willemijn J.;
Van Hove, Johan L. K.;
Vaz, Frédéric M.;
Havinga, Rick;
Allersma, Derk P.;
Zijp, Tanja R.;
Bedoyan, Jirair K.;
Heiner‐Fokkema, M. R.;
Reijngoud, Dirk‐Jan;
Geraghty, Michael T.;
Wanders, Ronald J. A.;
Oosterveer, Maaike H.;
Derks, Terry G. J.

Publication type:

Article

Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1265, doi. 10.1002/jimd.12275

By:

Staps, Pippa;
Rizzo, William B.;
Vaz, Frédéric M.;
Bugiani, Marianna;
Giera, Martin;
Heijs, Bram;
Kampen, Antoine H. C.;
Pras‐Raves, Mia L.;
Breur, Marjolein;
Groen, Annemieke;
Ferdinandusse, Sacha;
Graaf, Marinette;
Van Goethem, Gert;
Lammens, Martin;
Wevers, Ron A.;
Willemsen, Michèl A. A. P.

Publication type:

Article

Slc22a5 haploinsufficiency does not aggravate the phenotype of the long‐chain acyl‐CoA dehydrogenase KO mouse.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 486, doi. 10.1002/jimd.12204

By:

Ranea‐Robles, Pablo;
Yu, Chunli;
Vlies, Naomi;
Vaz, Frédéric M.;
Houten, Sander M.

Publication type:

Article

The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 303, doi. 10.1002/jimd.12042

By:

Klouwer, Femke C. C.;
Koot, Bart G. P.;
Berendse, Kevin;
Kemper, Elles M.;
Ferdinandusse, Sacha;
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