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Frédéric M. Vaz

laboratory genetic metabolic diseases

61H-index
380Paper Count
1.5WCitation Count
Published Papers 177
Publication Date
Microglial 5-LOX-activating protein antagonism alleviates leukotriene-driven neuroinflammation
err2026-08-04
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errJulia Konings; Fleur Mingneau; Serhii Chornyi; Cathrin E. Hansen; Rianne T. M. van der Brugt; Tessa G. van Elk; Laura Bolkaerts; Bo Batens; Gábor Tóth; Ingela Lanekoff; Frédéric M. Vaz; Alessio Cardilli; Marie Sels; Susanne M. A. van der Pol; Helga E. de Vries; Martin Giera; Oliver Werz; Sofie Kessels; Sanne G. S. Verberk; Jeroen F. J. Bogie; Merel Rijnsburger; Jerome J. A. Hendriks; Gijs Kooij
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Delayed molecular aging, preservation of energy metabolism and enhanced exercise response in exercise-trained human muscle
err2026-07-03
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PREAI
errGeorges E. Janssens; Maria M. Trętowicz; Lotte Grevendonk; Marit Kotte; Angelique Scantlebery; Bauke V. Schomakers; Michel van Weeghel; Jill Hermans; Martin A. T. Vervaart; Eric J. M. Wever; Simone W. Denis; Aldo Jongejan; Gajja S. Salomons; Frédéric M. Vaz; Patrick Schrauwen; Joris Hoeks; Riekelt H. Houtkooper
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HEPES in Cell Culture Alters the Multi-Omics Profile Exhibited by Gaucher Disease Fibroblasts
err2026-01-01
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errCorazolla, Eleonore M.; Schomakers, Bauke V.; Tretowicz, Maria M.; Hermans, Jill; van Weeghel, Michel; Vaz, Frederic M.; Pras-Raves, Mia L.; Ghauharali-van Der Vlugt, Karen; Beers-Stet, Femke S.; Goorden, Susanna M. I.; Jansen-Meijer, Judith; Janssens, Georges E.; Hollak, Carla E. M.; Houtkooper, Riekelt H.; van Kuilenburg, Andre B. P.
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Local accumulation of very long-chain PUFA in plexiform layers associates with retinal dysfunction in a mouse model of peroxisomal ACBD5-deficiency
err2025-12-01
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errJulia Merz; Elisabeth Müller; Warda Darwisch; Richard Fairless; Yixin Wang; Silke Vorwald; Sharau Darwisch; E. Ronald Curticean; Feng Shao; Irene Wacker; Rasmus R. Schröder; Claudia Pitzer; Christian Schultz; Jan-Bert van Klinken; Frederic M. Vaz; Frank Kratzer; Kathrin Schwarz; Jürgen G. Okun; Yuxi Feng; Carsten Hopf; Markus Islinger
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Pharmacokinetic Cross-Over Study of Pharmacy-Compounded Chenodeoxycholic Acid Capsules Compared to Authorized Capsules
err2025-11-27
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errNatalja Bouwhuis; Bart A. W. Jacobs; Soumia Majait; Frédéric M. Vaz; Carla E. M. Hollak; Eleonora L. Swart; E. Marleen Kemper
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Potential benefits of l-serine in children with GRIN2B loss-of-function variants: Randomized n-of-1 trials
err2025-10-30
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PREAI
errBibiche den Hollander; Marieke Rothuizen-Lindenschot; Hoang Lan Le; Jennifer R. Ramautar; Annelieke R. Müller; Lisa Geertjens; Frédéric M. Vaz; Agnies M. van Eeghen; Martina C. Cornel; Bart A.W. Jacobs; Hilgo Bruining; Peter M. van de Ven; Marion M. Brands; Clara D. van Karnebeek
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Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine
err2025-09-29
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errXiao Li; Mehdi Yeganeh; Graham Sinclair; Jill Mwenifumbo; Karen J. Jacob; Laura Arbour; Anna Lehman; Bojana Rakic; Frédéric M. Vaz; Gabriella Horvath; Maja Tarailo-Graovac; Sylvia Stockler-Ipsiroglu
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Two new cases of KYNU deficiency: Further delineation of the phenotypic and biochemical spectrum and exploration of treatment options
err2025-07-19
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errSusanna M.I. Goorden; Désirée Y. van Haaften-Visser; Maria M. Trętowicz; Ramon Bonte; Elly Bogaerts; Youssra Jamal; Sandrien Vrieswijk; Erika Huijser; Regina Bökenkamp; Roel L.F. van der Palen; Mariette J.V. Hoffer; Riekelt H. Houtkooper; Frédéric M. Vaz; Gijs W.E. Santen; Jörgen Bierau; Esmeralda Oussoren
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Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects
err2025-07-11
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PREAI
errYasmin Polak; Elles Marleen Kemper; Marc Engelen; Femke C. C. Klouwer; Kevin Berendse; Frédéric M. Vaz; Bart G. P. Koot; Eleonora (Noortje) L. Swart; Carla E. M. Hollak
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Cerebrospinal Fluid Metabolome in Central Nervous System Infections: A Study of Diagnostic Accuracy
err2025-06-17
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errSteven L. Staal MD; Sabine E. Olie MD; Michel van Weeghel PhD; Bauke V. Schomakers MSc; Frédéric M. Vaz PhD; I-PACE Study Group; Diederik van de Beek MD, PhD
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Challenges in the identification and quantification of an unknown impurity in chenodeoxycholic acid drug substance
err2025-02-01
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errBouwhuis, Natalja; Polak, Yasmin; Schimmel, Anneliene M.; Bijleveld, Yuma A.; Giera, Martin A.; Heijink, Marieke; Vaz, Frederic M.; Bootsma, Albert H.; ten Berg-Lammers, Laureen A.; Swart, Noortje E. L.; Hollak, Carla E. M.; Jacobs, Bart A. W.; Kemper, E. Marleen
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The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review
err2024-12-19
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errPolak, Yasmin; van Dussen, Laura; Kemper, E. Marleen; Vaz, Frederic M.; Klouwer, Femke C. C.; Engelen, Marc; Hollak, Carla E. M.
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Plasma triacylglycerol length and saturation level mark healthy aging groups in humans
err2024-11-27
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PREAI
errLi, Weisha; Schomakers, Bauke V.; van Weeghel, Michel; Grevendonk, Lotte; Vaz, Frederic M.; Salomons, Gajja S.; Schrauwen, Patrick; Hoeks, Joris; Gao, Arwen W.; Houtkooper, Riekelt H.; Janssens, Georges E.
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The composition of commercially available human embryo culture media
err2024-11-25
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errZagers, M. S.; Laverde, M.; Goddijn, M.; de Groot, J. J.; Schrauwen, F. A. P.; Vaz, F. M.; Mastenbroek, S.
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UGT8 mediated sulfatide synthesis modulates BAX localization and dictates apoptosis sensitivity of colorectal cancer
err2024-11-23
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errZhang, Le; Ramesh, Prashanthi; Atencia Taboada, Lidia; Roessler, Rebecca; Zijlmans, Dick W.; Vermeulen, Michiel; Picavet-Havik, Daisy I.; van der Wel, Nicole N.; Vaz, Frederic M.; Medema, Jan Paul
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Stimulating the sir2-spargel axis rescues exercise capacity and mitochondrial respiration in a Drosophila model of Barth syndrome (vol 15, dmm049279, 2022)
err2024-09-26
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errDamschroder, Deena; Zapata-Perez, Ruben; Richardson, Kristin; Vaz, Frederic M.; Houtkooper, Riekelt H.; Wessells, Robert
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Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy
err2024-09-10
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errJaspers, Yorrick R. J.; Yska, Hemmo A. F.; Bergner, Caroline G.; Dijkstra, Inge M. E.; Huffnagel, Irene C.; Voermans, Marije M. C.; Wever, Eric; Salomons, Gajja S.; Vaz, Frederic M.; Jongejan, Aldo; Hermans, Jill; Tryon, Rebecca K.; Lund, Troy C.; Koehler, Wolfgang; Engelen, Marc; Kemp, Stephan
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Long-term efficacy and safety of elamipretide in patients with Barth syndrome: 168-week open-label extension results of TAZPOWER
err2024-07-01
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errThompson, William R.; Manuel, Ryan; Abbruscato, Anthony; Carr, Jim; Campbell, John; Hornby, Brittany; Vaz, Frederic M.; Vernon, Hilary J.
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Four-dimensional lipidomics pro fi ling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry
err2024-06-01
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errJaspers, Yorrick R. J.; Meyer, Sven W.; Pras-Raves, Mia L.; Dijkstra, Inge M. E.; Wever, Eric J. M.; Dane, Adrie D.; van Klinken, Jan-Bert; Salomons, Gajja S.; Houtkooper, Riekelt H.; Engelen, Marc; Kemp, Stephan; Van Weeghel, Michel; Vaz, Frederic M.
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