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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 7