title: Carbohydrate-deficient glycoprotein syndrome: beyond the screen.
authors.affiliation: Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, SA, Australia. jmfletch@medicine.adelaide.edu.au
authors.forename: J M
authors.initials: JM
authors.lastname: Fletcher
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: E
authors.initials: E
authors.lastname: Van Schaftingen
authors.forename: P V
authors.initials: PV
authors.lastname: Nelson
mesh_terms: D002478:Cells, Cultured; D002648:Child; D018981:Congenital Disorders of Glycosylation / Q000097:blood / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000201:enzymology; D006801:Humans; D007223:Infant; D007525:Isoelectric Focusing; D017875:Phosphotransferases (Phosphomutases) / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D014168:Transferrin / Q000032:analysis; D001619:beta-N-Acetylhexosaminidases / Q000032:analysis
chemical_list: D014168:Transferrin; D001619:beta-N-Acetylhexosaminidases; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase