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Brain : a Journal of Neurology|December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathyJohannes Koch, Johannes A Mayr, Bader Alhaddad, et al.American Journal of Human Genetics|October 6, 2009
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinKarlien L M Coene, Ronald Roepman, Dan Doherty, et al.Analytical Chemistry|November 10, 2021
Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent EpilepsyRianne E van Outersterp, Udo F H Engelke, Jona Merx, et al.Radiology|November 9, 2006
MR imaging: effectiveness and costs at triage of patients with nonacute knee symptomsPatrice W J Vincken, Albert P M ter Braak, Arian R van Erkel, et al.Movement Disorders : Official Journal of the Movement Disorder Society|September 13, 2021
Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia TelangiectasiaStefanie J G Veenhuis, Nienke J H van Os, Anjo J W M Janssen, et al.Analytical Chemistry|June 21, 2023
Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of MetabolismRianne E van Outersterp, Pieter C Kooijman, Jona Merx, et al.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.American Journal of Human Genetics|August 3, 2010
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosaDikla Bandah-Rozenfeld, Rob W J Collin, Eyal Banin, et al.JIMD Reports|March 17, 2021
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variationKarlien L M Coene, Corrie Timmer, Susan M I Goorden, et al.Pageof 17