Author:
Inui K.,Yutaka T.,Okada S.,Yabuuchi H.,Wenger D. A.,Desnick R. J.
Subject
Genetics(clinical),Genetics
Reference10 articles.
1. Charrow, J., Inui, K. and Wenger, D. A. Late onset GM2 gangliosidosis: An α-locus genetic compound with near normal hexosaminidase activity.Clin. Genet. 27 (1985) 78–84
2. Conzelmann, E., Kytzia, H.-J., Navon, R. and Sandhoff, K. Ganglioside GM2 N-acetyl-β-d-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.Am. J. Hum. Genet. 35 (1983) 900–913
3. Fuchs, W., Navon, R., Kaback, M. M. and Kresse, H. Tay-Sachs disease: One-step assay of β-N-acetyl-hexosaminidase in serum with a sulphated chromogenic substrate.Clin. Chim. Acta 133 (1983) 253–261
4. Inui, K., Grebner, E. E., Jackson, L. G. and Wenger, D. A. Juvenile GM2 gangliosidosis (AMB variant): Inability to activate hexosaminidase A by activator protein.Am. J. Hum. Genet. 35 (1983) 551–564
5. Inui, K. and Wenger, D. A. Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamide-2-deoxy-β-d-glucopyranoside for the diagnosis of GM2 gangliosidosis in leukocytes.Clin. Genet. 26 (1984) 318–321
Cited by
7 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献