Showing results (91-100 of 107) with videos related to
Sort By:
Pageof 11
The American Journal of Clinical Nutrition|May 9, 2014
Vitamin B-6 vitamers in human plasma and cerebrospinal fluidMonique Albersen, Marjolein Bosma, Jurjen J Luykx, et al.Frontiers in Molecular Biosciences|November 29, 2023
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseasesAnke P Willems, Maria van der Ham, Birgit G M Schiebergen-Bronkhorst, et al.Journal of Inherited Metabolic Disease|October 21, 2021
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolismVivian Lehmann, Imre F Schene, Arif I Ardisasmita, et al.Blood Reviews|September 13, 2025
Metabolomics in sickle cell disease: Current knowledge and gaps - A scoping reviewSigrid van der Veen, Judith J M Jans, Eduard J van Beers, et al.Journal of Inherited Metabolic Disease|December 13, 2019
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?Hanneke A Haijes, Femke Molema, Mirjam Langeveld, et al.JCO Precision Oncology|February 21, 2025
Urinary Catecholamines Predict Relapse During Complete Remission in High-Risk NeuroblastomaYvette A H Matser, Atia Samim, Marta Fiocco, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 5, 2016
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disabilityGlen R Monroe, Gerardus W Frederix, Sanne M C Savelberg, et al.The New England Journal of Medicine|November 13, 2014
Monocarboxylate transporter 1 deficiency and ketone utilizationPeter M van Hasselt, Sacha Ferdinandusse, Glen R Monroe, et al.Brain Communications|September 21, 2023
Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndromeArthur W D Edridge, Gasim Abd-Elfarag, Martin Deijs, et al.The Journal of Clinical Investigation|February 14, 2017
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorderNoa Lipstein, Nanda M Verhoeven-Duif, Francesco E Michelassi, et al.Pageof 11