title: A new variant of the carbohydrate deficient glycoproteins syndrome.
authors.affiliation: Department of Neuropaediatrics, Technical University of Aachen, FRG.
authors.forename: V T
authors.initials: VT
authors.lastname: Ramaekers
authors.forename: H
authors.initials: H
authors.lastname: Stibler
authors.forename: J
authors.initials: J
authors.lastname: Kint
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism* / Q000473:pathology; D004576:Electromyography; D005071:Evoked Potentials / Q000502:physiology; D005260:Female; D005693:Galactosemias / Q000097:blood; D006023:Glycoproteins / Q000097:blood / Q000378:metabolism*; D006595:Hexosamines / Q000097:blood; D006801:Humans; D007223:Infant; D007525:Isoelectric Focusing; D008099:Liver / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008358:Mannose / Q000097:blood; D012794:Sialic Acids / Q000097:blood; D014168:Transferrin / Q000378:metabolism
chemical_list: D006023:Glycoproteins; D006595:Hexosamines; D012794:Sialic Acids; D014168:Transferrin; D008358:Mannose