Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene

被引：15

作者：

Kölker, S

Ramaekers, VT

Zschocke, J

Hoffmann, GF

机构：

[1] Univ Heidelberg, Childrens Hosp, Dept Gen Pediat, D-69120 Heidelberg, Germany

[2] Univ Aachen, Childrens Hosp, Dept Neuropediat, D-5100 Aachen, Germany

来源：

JOURNAL OF PEDIATRICS | 2001年 / 138卷 / 02期

关键词：

D O I：

10.1067/mpd.2001.110303

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A patient with glutaric aciduria type I had an acute encephalopathic crisis despite early treatment. This report indicates that current therapeutic strategies may be insufficient for some high-risk patients and stresses the demand for new approaches in glutaric aciduria type I.

引用

页码：277 / 279

页数：3