鞘脂贮积病的基本研究结果与当前进展
Basic findings and current developments in sphingolipidoses.
作者信息
Pilz H, Heipertz R, Seidel D
出版信息
Hum Genet. 1979 Mar 12;47(2):113-34. doi: 10.1007/BF00273194.
PMID:108196
Abstract
Sphingolipidoses are caused by recessively inherited deficiencies of lysosomal hydrolases. The clinical backgrounds of and current biochemical and genetic approaches to the different forms and variants of gangliosidoses, trihexosylceramidosis (Fabry's disease), galactosylceramidosis (Krabbe's disease), sulfatidoses (metachromatic leukodystrophies), glucosylceramidosis (Gaucher's disease), sphingomyelinoses (Niemann-Pick disease) and ceramidosis (Farber's disease) are presented.
摘要
鞘脂贮积症是由溶酶体水解酶的隐性遗传缺陷引起的。本文介绍了神经节苷脂贮积症、三己糖神经酰胺贮积症（法布里病）、半乳糖神经酰胺贮积症（克拉伯病）、硫脂贮积症（异染性脑白质营养不良）、葡糖神经酰胺贮积症（戈谢病）、鞘磷脂贮积症（尼曼-匹克病）和神经酰胺贮积症（法伯病）不同形式及变体的临床背景以及当前的生化和遗传学研究方法。
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