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[溶酶体β-半乳糖苷酶特性与GM1神经节苷脂贮积症的分子遗传学]

[Lysosomal beta-galactosidase properties and the molecular genetics of GM1 gangliosidosis].

作者信息

Vel'tishchev Iu E, Kalaidzhieva L V

出版信息

Vopr Med Khim. 1979 Nov-Dec;25(6):709-15.

PMID:117628
Abstract

Review of the data is presented on the hereditary disease gangliosidosis GM1 and on the enzyme beta-galactosidose, deficiency of which is responsible for this disease. Heterogeneity of the disease and existence of various forms of beta-galactosidase are considered. Possible correlation is discussed between the defects of the enzyme forms detected and the type of the disease.

摘要

本文综述了关于遗传性疾病GM1神经节苷脂贮积症以及β-半乳糖苷酶的数据,该酶的缺乏是导致这种疾病的原因。文中考虑了该疾病的异质性以及β-半乳糖苷酶多种形式的存在。还讨论了所检测到的酶形式缺陷与疾病类型之间可能存在的相关性。

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