Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: the challenge.
作者信息
Goodman S I
机构信息
Department of Pediatrics, University of Colorado Health Sciences Center, Denver, CO 80045, USA.
出版信息
J Inherit Metab Dis. 2004;27(6):801-3. doi: 10.1023/B:BOLI.0000045761.01465.47.
Abstract
The purpose of this review is to set the stage for discussions that follow about the biochemical and molecular bases of glutaric acidaemia type I, and about the pathogenesis of the characteristic acute striatal necrosis that often occurs during the first years of life.
摘要
Zotero 插件