Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology

被引：24

作者：

Eklund, EA

Sun, LW

Westphal, V

Northrop, JL

Freeze, HH

Scaglia, F

机构：

[1] Burnham Inst, Glycobiol & Carbohydrate Chem Program, La Jolla, CA 92037 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

JOURNAL OF PEDIATRICS | 2005年 / 147卷 / 06期

关键词：

D O I：

10.1016/j.jpeds.2005.07.042

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We present the clinical, molecular, and biochemical diagnosis of a patient with congenital disorder of glycosylation (CDG)-Ih. We report significant brain dysfunction in this multisystem disease, further expanding its complex clinical spectrum.

引用

页码：847 / 850

页数：4

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