Gert Matthijs1, Els Schollen, Emile Van Schaftingen. Show Affiliations » 1. Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium. gert.matthijs@med.kuleuven.ac.be
Abstract
Entities: Disease
Mesh: See more » Carbohydrate Metabolism, Inborn Errors/diagnosisCarbohydrate Metabolism, Inborn Errors/etiologyCarbohydrate Metabolism, Inborn Errors/geneticsGlucosyltransferases/deficiencyGlucosyltransferases/geneticsGlycoproteins/metabolismGlycosylationHumansMannose-6-Phosphate Isomerase/deficiencyMannose-6-Phosphate Isomerase/geneticsMembrane Proteins/deficiencyMembrane Proteins/geneticsMutationPhosphotransferases (Phosphomutases)/deficiencyPhosphotransferases (Phosphomutases)/geneticsPrenatal Diagnosis
Substances: See more » GlycoproteinsMembrane ProteinsGlucosyltransferasesdolichyl pyrophosphate Man(9)GlcNAc(2) alpha1,3-glucosyltransferaseMannose-6-Phosphate IsomerasePhosphotransferases (Phosphomutases)phosphomannomutase
Year: 2004 PMID: 14974118 DOI: 10.1002/pd.815
Source DB: PubMed Journal: Prenat Diagn ISSN: 0197-3851 Impact factor: 3.050