Diagnosis of infantile and juvenile form
โ
H. -J. Kytzia; U. Hinrichs; K. Sandhoff
๐
Article
๐
1984
๐
Springer
๐
English
โ 432 KB
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