检测皮肤成纤维细胞中GM2神经节苷脂裂解己糖胺酶活性以诊断GM2神经节苷脂贮积症。 - Suppr

Assay of the GM2-ganglioside cleaving hexosaminidase activity of skin fibroblasts for GM2-gangliosidoses.

作者信息

Harzer K

出版信息

Clin Chim Acta. 1983 Nov 30;135(1):89-93. doi: 10.1016/0009-8981(83)90392-3.

DOI:10.1016/0009-8981(83)90392-3

PMID:6228344

Abstract

摘要

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Assay of the GM2-ganglioside cleaving hexosaminidase activity of skin fibroblasts for GM2-gangliosidoses.

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引用本文的文献

High-resolution loading tests in the study of genetic heterogeneity in gangliosidosis fibroblasts.

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GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.

Am J Hum Genet. 1985 Nov;37(6):1071-82.

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Assay of the GM2-ganglioside cleaving hexosaminidase activity of skin fibroblasts for GM2-gangliosidoses.

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