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Congenital disorders of glycosylation: Glycosylation defects in man and biological models for their study

被引：54
作者：
Marquardt, T
Freeze, H
机构：
[1] Univ Munster, Kinderheilkunde Klin & Poliklin, D-48149 Munster, Germany
[2] Burnham Inst, La Jolla, CA 92037 USA
来源：
BIOLOGICAL CHEMISTRY | 2001年 / 382卷 / 02期
关键词：
CDG; glycosylation; HEMPAS; LAD II;
D O I：
10.1515/BC.2001.024
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Several inherited disorders affecting the biosynthetic pathways of N-glycans have been discovered during the past years. This review summarizes the current knowledge in this rapidly expanding field and covers the molecular bases of these disorders as well as their phenotypical consequences.
引用
收藏
页码：161 / 177
页数：17
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