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Journal of Inherited Metabolic Disease|November 16, 2017
Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectraJan Václavík, Karlien L M Coene, Ivo Vrobel, et al.Analytica Chimica Acta|November 19, 2019
Infrared ion spectroscopy: New opportunities for small-molecule identification in mass spectrometry - A tutorial perspectiveJonathan Martens, Rianne E van Outersterp, Rob J Vreeken, et al.Journal of Inherited Metabolic Disease|April 12, 2021
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolismLaura K M Steinbusch, Ping Wang, Huub W A H Waterval, et al.Journal of Inherited Metabolic Disease|June 21, 2023
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot studyBibiche den Hollander, Marion M Brands, Lonneke de Boer, et al.Journal of Inherited Metabolic Disease|March 31, 2024
The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuriaA M J van Wegberg, J C van der Weerd, U F H Engelke, et al.Metabolites|September 26, 2021
Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational PipelineBrechtje Hoegen, Alan Zammit, Albert Gerritsen, et al.Neurotoxicology|April 14, 2012
Manganese exposure and cognitive deficits: a growing concern for manganese neurotoxicityH A Roels, R M Bowler, Y Kim, et al.Metabolites|September 27, 2024
Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated PatientsJorine C van der Weerd, Annemiek M J van Wegberg, Theo S Boer, et al.JIMD Reports|September 6, 2021
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activityMarne C Hagemeijer, Esmee Oussoren, George J G Ruijter, et al.Communications Biology|September 21, 2022
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type IIJona Merx, Rianne E van Outersterp, Udo F H Engelke, et al.Pageof 17