Showing 1 - 20 results of 25 for search 'Ron A Wevers', query time: 0.08s
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A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios[S] by Frédéric M. Vaz, Albert H. Bootsma, Willem Kulik, Aad Verrips, Ron A. Wevers, Peter C. Schielen, Andrea E. DeBarber, Hidde H. Huidekoper
Published 2017-05-01
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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 2024-02-01
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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 2024-03-01
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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 2023-11-01
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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 2020-07-01
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A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses. by Eveline J Langereis, Tom Wagemans, Wim Kulik, Dirk J Lefeber, Henk van Lenthe, Esmee Oussoren, Ans T van der Ploeg, George J Ruijter, Ron A Wevers, Frits A Wijburg, Naomi van Vlies
Published 2015-01-01
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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 2024-11-01
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Identification of novel translational urinary biomarkers for acetaminophen-induced acute liver injury using proteomic profiling in mice. by Rachel P L van Swelm, Coby M M Laarakkers, Ellen C van der Kuur, Eva Morava-Kozicz, Ron A Wevers, Kevin D Augustijn, Daan J Touw, Maro H Sandel, Rosalinde Masereeuw, Frans G M Russel
Published 2012-01-01
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A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency by Jan Václavík, Lucie Mádrová, Štěpán Kouřil, Julie de Sousa, Radana Brumarová, Hana Janečková, Jaroslava Jáčová, David Friedecký, Mária Knapková, Leo A. J. Kluijtmans, Sarah C. Grünert, Frédéric M. Vaz, Nils Janzen, Ronald J. A. Wanders, Ron A. Wevers, Tomáš Adam
Published 2020-07-01
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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 2021-08-01
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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 2024-08-01
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Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II by Jona Merx, Rianne E. van Outersterp, Udo F. H. Engelke, Veronique Hendriks, Ron A. Wevers, Marleen C. D. G. Huigen, Huub W. A. H. Waterval, Irene M. L. W. Körver-Keularts, Jasmin Mecinović, Floris P. J. T. Rutjes, Jos Oomens, Karlien L. M. Coene, Jonathan Martens, Thomas J. Boltje
Published 2022-09-01
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