Publications by authors named "Frederic Vaz"

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Potential benefits of l-serine in children with GRIN2B loss-of-function variants: Randomized n-of-1 trials.
Bibiche den Hollander, Marieke Rothuizen-Lindenschot, Hoang Lan Le, Jennifer R Ramautar, Annelieke R Müller, Frédéric M Vaz

Mol Genet Metab· December 2025

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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.
Julia Merz, Elisabeth Müller, Warda Darwisch, Richard Fairless, Yixin Wang, Frederic M Vaz

Cell Mol Life Sci· December 2025

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Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue.
Bauke V Schomakers, Adriana S Passadouro, Maria M Trętowicz, Pelle J Simpson, Yorrick R J Jaspers, Frédéric M Vaz

EMBO Mol Med· November 2025

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Cerebrospinal Fluid Metabolome in Central Nervous System Infections: A Study of Diagnostic Accuracy.
Steven L Staal, Sabine E Olie, Michel van Weeghel, Bauke V Schomakers, Frédéric M Vaz

Ann Neurol· October 2025

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Two new cases of KYNU deficiency: Further delineation of the phenotypic and biochemical spectrum and exploration of treatment options.
Susanna M I Goorden, Désirée Y van Haaften-Visser, Maria M Trętowicz, Ramon Bonte, Elly Bogaerts, Frédéric M Vaz

Mol Genet Metab· October 2025

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Genetic suppression features ABHD18 as a Barth syndrome therapeutic target.
Sanna N Masud, Anchal Srivastava, Patricia Mero, Victoria Saba Echezarreta, Eve Anderson, Frédéric M Vaz

Nature· September 2025

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Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine.
Xiao Li, Mehdi Yeganeh, Graham Sinclair, Jill Mwenifumbo, Karen J Jacob, Frédéric M Vaz

NPJ Genom Med· September 2025

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Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.
Marije A B C Asbreuk, Daphne H Schoenmakers, Laura Ann Adang, Shanice Beerepoot, Caroline Bergner, Frédéric M Vaz

Neurology· July 2025

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Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects.
Yasmin Polak, Elles Marleen Kemper, Marc Engelen, Femke C C Klouwer, Kevin Berendse, Frédéric M Vaz

J Inherit Metab Dis· July 2025

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Targeting phospholipase PLAG-15 promotes healthy aging in via lysosomal-related genes.
Sanne van der Rijt, Marte Molenaars, Rashmi Kamble, Weisha Li, Bauke V Schomakers, Frédéric M Vaz

iScience· July 2025

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UGT8 mediated sulfatide synthesis modulates BAX localization and dictates apoptosis sensitivity of colorectal cancer.
Le Zhang, Prashanthi Ramesh, Lidia Atencia Taboada, Rebecca Roessler, Dick W Zijlmans, Frédéric M Vaz

Cell Death Differ· April 2025

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Plasma triacylglycerol length and saturation level mark healthy aging groups in humans.
Weisha Li, Bauke V Schomakers, Michel van Weeghel, Lotte Grevendonk, Frédéric M Vaz

Geroscience· April 2025

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The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative disorders.
Enza Ferrero, Frédéric M Vaz, David Cheillan, Alfredo Brusco, Cecilia Marelli

Mol Genet Metab· March 2025

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Challenges in the identification and quantification of an unknown impurity in chenodeoxycholic acid drug substance.
Natalja Bouwhuis, Yasmin Polak, Anneliene M Schimmel, Yuma A Bijleveld, Martin A Giera, Frédéric M Vaz

Eur J Pharm Sci· February 2025

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Disorders of fatty acid homeostasis.
Frédéric M Vaz, Sacha Ferdinandusse, Gajja S Salomons, Ronald J A Wanders

J Inherit Metab Dis· January 2025

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Mitochondrial membrane synthesis, remodelling and cellular trafficking.
Martina Messina, Frédéric M Vaz, Shamima Rahman

J Inherit Metab Dis· January 2025

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Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.
Eline C B Eskes, Laura van Dussen, Marion M M G Brands, Frédéric M Vaz, Johannes M F G Aerts

J Inherit Metab Dis· January 2025

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The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review.
Yasmin Polak, Laura van Dussen, E Marleen Kemper, Frédéric M Vaz, Femke C C Klouwer

Orphanet J Rare Dis· December 2024

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Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy.
Yorrick R J Jaspers, Hemmo A F Yska, Caroline G Bergner, Inge M E Dijkstra, Irene C Huffnagel, Frédéric M Vaz

Commun Med (Lond)· September 2024

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Correction: Stimulating the sir2-spargel axis rescues exercise capacity and mitochondrial respiration in a Drosophila model of Barth syndrome.
Deena Damschroder, Rubén Zapata-Pérez, Kristin Richardson, Frédéric M Vaz, Riekelt H Houtkooper

Dis Model Mech· September 2024

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Long-term efficacy and safety of elamipretide in patients with Barth syndrome: 168-week open-label extension results of TAZPOWER.
William R Thompson, Ryan Manuel, Anthony Abbruscato, Jim Carr, John Campbell, Frédéric M Vaz

Genet Med· July 2024

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Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry.
Yorrick R J Jaspers, Sven W Meyer, Mia L Pras-Raves, Inge M E Dijkstra, Eric J M Wever, Frédéric M Vaz

J Lipid Res· June 2024

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Dietary linoleic acid supplementation fails to rescue established cardiomyopathy in Barth syndrome.
Siting Zhu, Jing Pang, Anh Nguyen, Helen Huynh, Sharon Lee, Frederic M Vaz

J Mol Cell Cardiol Plus· June 2024

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Plasma Lipidomic Profiles in cART-Treated Adolescents with Perinatally Acquired HIV Compared to Matched Controls.
Julie van der Post, Thiara E J Guerra, Malon van den Hof, Frédéric M Vaz, Dasja Pajkrt

Viruses· April 2024

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