CDG IIx with unusual phenotype

被引：5

作者：

Cheillan, D

Cognat, S

Dorche, C

Jaeken, J

Vianey-Saban, C

Guffon, N

机构：

[1] Hop Debrousse, Serv Biochim Pediat, F-69005 Lyon, France

[2] Univ Hosp Gasthuisberg, Dept Pediat, Ctr Metab Dis, B-3000 Louvain, Belgium

[3] Hop Edouard Herriot, Serv Pediat, Unite Malad Metab, Lyon, France

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2004年 / 27卷 / 01期

关键词：

D O I：

10.1023/B:BOLI.0000016679.20481.4a

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Congenital disorders of glycosylation (CDG) are a group of genetic diseases characterized by defective protein glycosylation. N-glycosylation defects are divided into two groups (I and II). CDG group II (types IIa to IIe) refers to defects in the Golgi processing of protein-bound glycans. We report a patient with CDG IIx and an unusual phenotype.

引用

页码：103 / 104

页数：2

共 3 条

[1] Deficiency of UDP-galactose:N-acetylglucosamine β-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId [J].