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Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

A sensitive assay was developed to assess the ability of extracts from cultured fibroblasts to catabolize ganglioside GM2, in the presence of the natural activator protein but without detergents. This method, which permitted the reliable determination of residual activities as low as 0.1% of normal...

詳細記述

保存先:
書誌詳細
主要な著者: Conzelmann, E, Kytzia, H J, Navon, R, Sandhoff, K
フォーマット: Artigo
言語:Inglês
出版事項: 1983
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685812/
https://ncbi.nlm.nih.gov/pubmed/6614006
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