Publications by authors named "Ron Wevers"

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Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders.
Jonathan Martens, Udo F H Engelke, Ron A Wevers, Dirk J Lefeber, Purva Kulkarni

J Inherit Metab Dis· January 2026

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New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse.
Clara D M van Karnebeek, Valérie Gailus-Durner, Udo F Engelke, Claudia Seisenberger, Susan Marschall, Ron A Wevers

Brain Commun· November 2025

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Semi-Targeted Nuclear Magnetic Resonance Metabolomics via Parahydrogen-Induced Hyperpolarization for Enhanced Sensitivity to Metabolic Composition.
Thom B Posthumus, Udo F H Engelke, Ruud L E G Aspers, Jona Merx, Thomas J Boltje, Ron A Wevers

J Am Chem Soc· September 2025

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Structure Elucidation for MALDI Mass Spectrometry Imaging Using Infrared Ion Spectroscopy.
Jelle L Schuurman, Lara van Tetering, Kas J Houthuijs, Pieter Kooijman, Valerie Gailus-Durner, Ron A Wevers

Anal Chem· July 2025

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Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants.
Robin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, Gayatri Ramakrishnan, Jill A Rosenfeld, Ron A Wevers

medRxiv· June 2025

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Dependence of mitochondrial calcium signalling and dynamics on the disaggregase, CLPB.
Donato D'Angelo, Víctor H Sánchez-Vázquez, Benjamín Cartes-Saavedra, Denis Vecellio Reane, Ryan R Cupo, Ron A Wevers

Nat Commun· March 2025

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A Dutch translational knowledge agenda for inherited metabolic diseases.
Hans R Waterham, Ronald J A Wanders, Ron A Wevers, Clara D van Karnebeek

J Inherit Metab Dis· January 2025

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A rare homozygous variant causes adult-onset diabetes.
Roel Tans, Tine Glendorf, Antonius E van Herwaarden, Hanka Venselaar, Danique M H van Rijswijck, Ron A Wevers

BMJ Open Diabetes Res Care· December 2024

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Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.
Abigail Veldman, Birgit Sikkema-Raddatz, Terry G J Derks, Clara D M van Karnebeek, M B Gea Kiewiet, Ron A Wevers

Int J Neonatal Screen· December 2024

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Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine.
Katarina Šikić, Tessa M A Peters, Udo Engelke, Danijela Petković Ramadža, Tamara Žigman, Ron A Wevers

JIMD Rep· November 2024

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Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.
Jorine C van der Weerd, Annemiek M J van Wegberg, Theo S Boer, Udo F H Engelke, Karlien L M Coene, Ron A Wevers

Metabolites· August 2024

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Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Blai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, Angels García-Cazorla, Mar O'Callaghan, Ron A Wevers

Mol Genet Metab· July 2024

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Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
Tessa M A Peters, Udo F H Engelke, Siebolt de Boer, Joris T G Reintjes, Jean-Baptiste Roullet, Ron A Wevers

J Inherit Metab Dis· May 2024

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Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Itay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau, Melissa L DiBacco, Sarah H Elsea, Ron A Wevers

Mol Genet Metab· May 2024

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Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic Variants.
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes A van Gemert, Mélodie Aubart, Ron A Wevers

Neurol Genet· April 2024

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CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers.
Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ron A Wevers

Mol Genet Metab Rep· March 2024

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Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.
Frédéric M Vaz, Pippa Staps, Jan Bert van Klinken, Henk van Lenthe, Martin Vervaart, Ron A Wevers

Biochim Biophys Acta Mol Cell Biol Lipids· March 2024

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A framework for evaluating long-term impact of newborn screening.
Shona Kalkman, Ron A Wevers, Frits A Wijburg, Mariska M G Leeflang

Eur J Hum Genet· February 2024

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Correction: A framework for evaluating long-term impact of newborn screening.
Shona Kalkman, Ron A Wevers, Frits A Wijburg, Mariska M G Leeflang

Eur J Hum Genet· February 2024

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A spectroscopic test suggests that fragment ion structure annotations in MS/MS libraries are frequently incorrect.
Lara van Tetering, Sylvia Spies, Quirine D K Wildeman, Kas J Houthuijs, Rianne E van Outersterp, Ron A Wevers

Commun Chem· February 2024

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Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
Nadra Samra, Nicolette S Jansen, Ilham Morani, Reli Rachel Kakun, Rinat Zaid, Ron A Wevers

J Med Genet· November 2023

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PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.
Melanie T Achleitner, Judith J M Jans, Laura Ebner, Johannes Spenger, Vassiliki Konstantopoulou, Ron A Wevers

Metabolites· November 2023

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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.
Abigail Veldman, M B Gea Kiewiet, Dineke Westra, Annet M Bosch, Marion M G Brands, Ron A Wevers

Int J Neonatal Screen· October 2023

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Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism.
Rianne E van Outersterp, Pieter C Kooijman, Jona Merx, Udo F H Engelke, Nematollah Omidikia, Ron A Wevers

Anal Chem· July 2023

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An Infrared Spectral Library of Molecular Ions for Metabolite Identification.
Kas J Houthuijs, Giel Berden, Udo F H Engelke, Vasuk Gautam, David S Wishart, Ron A Wevers

Anal Chem· June 2023

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