Search Results - Ron A Wevers
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Peripheral decarboxylase inhibitors paradoxically induce aromatic L-amino acid decarboxylase by Anouke van Rumund, Lukas Pavelka, Rianne A. J. Esselink, Ben P. M. Geurtz, Ron A. Wevers, Brit Mollenhauer, Rejko Krüger, Bastiaan R. Bloem, Marcel M. Verbeek
Published in npj Parkinson's Disease (2021-03-01)Get full text
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A spectroscopic test suggests that fragment ion structure annotations in MS/MS libraries are frequently incorrect by Lara van Tetering, Sylvia Spies, Quirine D. K. Wildeman, Kas J. Houthuijs, Rianne E. van Outersterp, Jonathan Martens, Ron A. Wevers, David S. Wishart, Giel Berden, Jos Oomens
Published in Communications Chemistry (2024-02-01)Get full text
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CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers by Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ching-wan Lam, Virginia Chun-Nei Wong, Fanny Mochel, Ron A. Wevers, Cheuk-Wing Fung
Published in Molecular Genetics and Metabolism Reports (2024-03-01)Get full text
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PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening by Melanie T. Achleitner, Judith J. M. Jans, Laura Ebner, Johannes Spenger, Vassiliki Konstantopoulou, René G. Feichtinger, Karin Brugger, Doris Mayr, Ron A. Wevers, Christian Thiel, Saskia B. Wortmann, Johannes A. Mayr
Published in Metabolites (2023-11-01)Get full text
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The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP. by Flora Szeri, Stefan Lundkvist, Sylvia Donnelly, Udo F H Engelke, Kyu Rhee, Charlene J Williams, John P Sundberg, Ron A Wevers, Ryan E Tomlinson, Robert S Jansen, Koen van de Wetering
Published in PLoS Genetics (2020-07-01)Get full text
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Huppke–Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N‐acetylcysteine by Katarina Šikić, Tessa M. A. Peters, Udo Engelke, Danijela Petković Ramadža, Tamara Žigman, Ksenija Fumić, Maša Davidović, Sanda Huljev Frković, Tibor Körmendy, Diego Martinelli, Antonio Novelli, Francesca Romana Lepri, Ron A. Wevers, Ivo Barić
Published in JIMD Reports (2024-11-01)Get full text
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Dependence of mitochondrial calcium signalling and dynamics on the disaggregase, CLPB by Donato D’Angelo, Víctor H. Sánchez-Vázquez, Benjamín Cartes-Saavedra, Denis Vecellio Reane, Ryan R. Cupo, Hilda Delgado de la Herran, Giorgia Ghirardo, James Shorter, Ron A. Wevers, Saskia B. Wortmann, Fabiana Perocchi, Rosario Rizzuto, Anna Raffaello, György Hajnóczky
Published in Nature Communications (2025-03-01)Get full text
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Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline by Brechtje Hoegen, Alan Zammit, Albert Gerritsen, Udo F. H. Engelke, Steven Castelein, Maartje van de Vorst, Leo A. J. Kluijtmans, Marleen C. D. G. Huigen, Ron A. Wevers, Alain J. van Gool, Christian Gilissen, Karlien L. M. Coene, Purva Kulkarni
Published in Metabolites (2021-08-01)Get full text
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Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients by Jorine C. van der Weerd, Annemiek M. J. van Wegberg, Theo S. Boer, Udo F. H. Engelke, Karlien L. M. Coene, Ron A. Wevers, Stephan J. L. Bakker, Pim de Blaauw, Joost Groen, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema
Published in Metabolites (2024-08-01)Get full text
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Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability by Abigail Veldman, Birgit Sikkema-Raddatz, Terry G. J. Derks, Clara D. M. van Karnebeek, M. B. Gea Kiewiet, Margaretha F. Mulder, Marcel R. Nelen, M. Estela Rubio-Gozalbo, Richard J. Sinke, Monique G. de Sain-van der Velden, Gepke Visser, Maaike C. de Vries, Dineke Westra, Monique Williams, Ron A. Wevers, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Published in International Journal of Neonatal Screening (2024-12-01)Get full text
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A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening by Abigail Veldman, M. B. Gea Kiewiet, Dineke Westra, Annet M. Bosch, Marion M. G. Brands, René I. F. M. de Coo, Terry G. J. Derks, Sabine A. Fuchs, Johanna. M. P. van den Hout, Hidde H. Huidekoper, Leo A. J. Kluijtmans, Klaas Koop, Charlotte M. A. Lubout, Margaretha F. Mulder, Bianca Panis, M. Estela Rubio-Gozalbo, Monique G. de Sain-van der Velden, Jaqueline Schaefers, Andrea B. Schreuder, Gepke Visser, Ron A. Wevers, Frits A. Wijburg, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Published in International Journal of Neonatal Screening (2023-10-01)Get full text
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Preanalytical Pitfalls in Untargeted Plasma Nuclear Magnetic Resonance Metabolomics of Endocrine Hypertension by Nikolaos G. Bliziotis, Leo A. J. Kluijtmans, Gerjen H. Tinnevelt, Parminder Reel, Smarti Reel, Katharina Langton, Mercedes Robledo, Christina Pamporaki, Alessio Pecori, Josie Van Kralingen, Martina Tetti, Udo F. H. Engelke, Zoran Erlic, Jasper Engel, Timo Deutschbein, Svenja Nölting, Aleksander Prejbisz, Susan Richter, Jerzy Adamski, Andrzej Januszewicz, Filippo Ceccato, Carla Scaroni, Michael C. Dennedy, Tracy A. Williams, Livia Lenzini, Anne-Paule Gimenez-Roqueplo, Eleanor Davies, Martin Fassnacht, Hanna Remde, Graeme Eisenhofer, Felix Beuschlein, Matthias Kroiss, Emily Jefferson, Maria-Christina Zennaro, Ron A. Wevers, Jeroen J. Jansen, Jaap Deinum, Henri J. L. M. Timmers
Published in Metabolites (2022-07-01)Get full text
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