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Communications Biology|March 20, 2021
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolismRianne E van Outersterp, Sam J Moons, Udo F H Engelke, et al.Journal of Inherited Metabolic Disease|July 17, 2023
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspectiveTessa M A Peters, Udo F H Engelke, Siebolt de Boer, et al.Endocrine|September 18, 2021
Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paragangliomaNikolaos G Bliziotis, Leo A J Kluijtmans, Sebastian Soto, et al.Journal of Inherited Metabolic Disease|January 18, 2023
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new casesMerel A Post, Isis de Wit, Fokje S M Zijlstra, et al.Journal of Inherited Metabolic Disease|February 18, 2018
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patientsKarlien L M Coene, Leo A J Kluijtmans, Ed van der Heeft, et al.Journal of Inherited Metabolic Disease|September 11, 2022
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficitTessa M A Peters, Jona Merx, Pieter C Kooijman, et al.Frontiers in Neurology|June 24, 2021
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical SpectrumBibiche den Hollander, Anne Rasing, Merel A Post, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2022
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional testsElise A Ferreira, Annemarijne R J Veenvliet, Udo F H Engelke, et al.Metabolites|July 27, 2022
Preanalytical Pitfalls in Untargeted Plasma Nuclear Magnetic Resonance Metabolomics of Endocrine HypertensionNikolaos G Bliziotis, Leo A J Kluijtmans, Gerjen H Tinnevelt, et al.Pageof 30