title: [Carbohydrate-deficient glycoprotein (CDG) syndrome (Jaeken syndrome)].
authors.affiliation: Department of Neurobiology, Tottori University Faculty of Medicine.
authors.forename: K
authors.initials: K
authors.lastname: Ohno
mesh_terms: D001212:Asialoglycoproteins / Q000032:analysis; D018981:Congenital Disorders of Glycosylation / Q000145:classification / Q000209:etiology; D003937:Diagnosis, Differential; D006801:Humans; D008358:Mannose / Q000627:therapeutic use; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000172:deficiency; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency / Q000235:genetics; D014168:Transferrin / Q000031:analogs & derivatives / Q000032:analysis
chemical_list: D001212:Asialoglycoproteins; D014168:Transferrin; C017031:asialotransferrins; D017351:N-Acetylglucosaminyltransferases; C063312:beta-1,3-galactosyl-0-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase; D008358:Mannose