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采用基质辅助激光解吸飞行时间质谱法诊断碳水化合物缺乏糖蛋白综合征。

Diagnosis of carbohydrate-deficient glycoprotein syndrome by matrix-assisted laser desorption time-of-flight mass spectrometry.

作者信息

Wada Y, Gu J, Okamoto N, Inui K

机构信息

Department of Molecular Medicine, Osaka Medical Center, Japan.

出版信息

Biol Mass Spectrom. 1994 Feb;23(2):108-9. doi: 10.1002/bms.1200230211.

DOI:10.1002/bms.1200230211
PMID:8123689
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.

摘要

采用基质辅助激光解吸飞行时间质谱法（MALDI-TOF质谱法）分析了碳水化合物缺乏糖蛋白综合征患者的血清转铁蛋白。明确鉴定出了具有一条或两条2200 Da寡糖链缺陷的异常分子种类。MALDI-TOF质谱法将有助于诊断这种病因不明的代谢性疾病。

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