title: Diagnosis of carbohydrate-deficient glycoprotein syndrome by matrix-assisted laser desorption time-of-flight mass spectrometry.
abstract: Serum transferrin from patients with carbohydrate-deficient glycoprotein syndrome was analysed by matrix-assisted laser desorption time-of-flight mass spectrometry (MALDI-TOF mass spectrometry). Abnormal molecular species with a defect of one or two oligosaccharide chains of 2200 Da were clearly identified. MALDI-TOF mass spectrometry will serve to diagnose this aetiologically unknown, metabolic disease.
authors.affiliation: Department of Molecular Medicine, Osaka Medical Center, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Wada
authors.forename: J
authors.initials: J
authors.lastname: Gu
authors.forename: N
authors.initials: N
authors.lastname: Okamoto
authors.forename: K
authors.initials: K
authors.lastname: Inui
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D006023:Glycoproteins / Q000097:blood / Q000737:chemistry*; D006801:Humans; D013058:Mass Spectrometry / Q000379:methods; D012794:Sialic Acids / Q000032:analysis* / Q000097:blood; D013577:Syndrome; D014168:Transferrin / Q000737:chemistry*
chemical_list: D006023:Glycoproteins; D012794:Sialic Acids; D014168:Transferrin