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Diagnosis of carbohydrate‐deficient glycoprotein syndrome by matrix‐assisted laser desorption time‐of‐flight mass spectrometry
Author(s) -
Wada Yoshinao,
Gu Jianguo,
Okamoto Nobuhiko,
Inui Koji
Publication year - 1994
Publication title -
biological mass spectrometry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.475
H-Index - 121
eISSN - 1096-9888
pISSN - 1052-9306
DOI - 10.1002/bms.1200230211
Subject(s) - mass spectrometry , glycoprotein , oligosaccharide , chemistry , desorption , carbohydrate , time of flight mass spectrometry , molecular mass , chromatography , transferrin , matrix assisted laser desorption/ionization , matrix (chemical analysis) , biochemistry , organic chemistry , enzyme , ion , adsorption , ionization
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.

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