Publications by authors named "Udo Engelke"

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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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Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy.
Imke M E Schuurmans, Udo Engelke, Muna Abedrabbo, Sofía Puvogel, Rachel Mijdam

Mol Ther Nucleic Acids· December 2025

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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

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

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, Udo F H Engelke

Anal Chem· July 2025

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X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability.
Willem M A Verhoeven, Rolph Pfundt, Udo F H Engelke, Leo A J Kluijtmans, Jos I M Egger

Int Med Case Rep J· January 2025

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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

JIMD Rep· November 2024

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Application of a Computational Metabolomics Workflow for the Diagnosis of Inborn Errors of Metabolism in a Laboratory Setting.
Udo F H Engelke, Alan Zammit, Albert Gerritsen, Marloes A H M Michels, Karlien L M Coene

Methods Mol Biol· October 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

Metabolites· August 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

J Inherit Metab Dis· May 2024

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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

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

Anal Chem· June 2023

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MOGS-CDG: Quantitative analysis of the diagnostic Glc Man tetrasaccharide and clinical spectrum of six new cases.
Merel A Post, Isis de Wit, Fokje S M Zijlstra, Udo F H Engelke, Arno van Rooij

J Inherit Metab Dis· March 2023

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Targeted Small-Molecule Identification Using Heartcutting Liquid Chromatography-Infrared Ion Spectroscopy.
Rianne E van Outersterp, Jitse Oosterhout, Christoph R Gebhardt, Giel Berden, Udo F H Engelke

Anal Chem· February 2023

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Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.
Tessa M A Peters, Jona Merx, Pieter C Kooijman, Marek Noga, Siebolt de Boer, Udo F H Engelke

J Inherit Metab Dis· January 2023

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Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Elise A Ferreira, Annemarijne R J Veenvliet, Udo F H Engelke, Leo A J Kluijtmans, Marleen C D G Huigen

Genet Med· January 2023

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Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics Data.
Michiel Bongaerts, Purva Kulkarni, Alan Zammit, Ramon Bonte, Leo A J Kluijtmans, Udo F H Engelke

Metabolites· January 2023

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Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.
Jona Merx, Rianne E van Outersterp, Udo F H Engelke, Veronique Hendriks, Ron A Wevers

Commun Biol· September 2022

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Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.
Brechtje Hoegen, Juliet E Hampstead, Udo F H Engelke, Purva Kulkarni, Ron A Wevers

J Inherit Metab Dis· July 2022

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Preanalytical Pitfalls in Untargeted Plasma Nuclear Magnetic Resonance Metabolomics of Endocrine Hypertension.
Nikolaos G Bliziotis, Leo A J Kluijtmans, Gerjen H Tinnevelt, Parminder Reel, Smarti Reel, Udo F H Engelke

Metabolites· July 2022

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Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.
Laura A Tseng, Udo F H Engelke, Marleen C D G Huigen, Leo A J Kluijtmans, Charlotte A Haaxma

Clin Chem· May 2022

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Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paraganglioma.
Nikolaos G Bliziotis, Leo A J Kluijtmans, Sebastian Soto, Gerjen H Tinnevelt, Katharina Langton, Udo F H Engelke

Endocrine· January 2022

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Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia.
Stefanie J G Veenhuis, Nienke J H van Os, Anjo J W M Janssen, Marjo H J C van Gerven, Karlien L M Coene, Udo F H Engelke

Mov Disord· December 2021

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Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy.
Rianne E van Outersterp, Udo F H Engelke, Jona Merx, Giel Berden, Mathias Paul

Anal Chem· November 2021

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Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.
Brechtje Hoegen, Alan Zammit, Albert Gerritsen, Udo F H Engelke, Steven Castelein

Metabolites· August 2021

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