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Molecular and structural studies of the GM2 gangliosidosis 0 variant

✍ Scribed by H. Sakuraba; F. Matsuzawa; S. Aikawa; H. Doi; M. Kotani; H. Lin; K. Ohno; A. Tanaka; H. Yamada; E. Uyama


Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
334 KB
Volume
47
Category
Article
ISSN
1435-232X

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p-Nitrophenyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyranoside, which is known to be a specific substrate for human hexosaminidase A, has recently been used successfully for diagnosis of variants B and B1 of GM2-gangliosidosis (Fuchs et al. 1983; Kytzia et al. 1983; Li et al. 1983). However, it is