DIAGNOSIS OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME BY MATRIX-ASSISTED LASER-DESORPTION TIME-OF-FLIGHT MASS-SPECTROMETRY

被引:47
作者
WADA, Y
GU, JG
OKAMOTO, N
INUI, K
机构
[1] RES INST MATERNAL & CHILD HLTH,IZUMI,OSAKA 59002,JAPAN
[2] OSAKA UNIV,SCH MED,DEPT PAEDIAT,SUITA,OSAKA 565,JAPAN
关键词
D O I
10.1002/bms.1200230211
中图分类号
Q6 [生物物理学];
学科分类号
071011 ;
摘要
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.
引用
收藏
页码:108 / 109
页数:2
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