Diagnosis of Tay-Sachs disease using [3H]N-acetylneuraminic acid labelled GM2 ganglioside as substrate
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference23 articles.
1. The gangliosidoses;O'Brien,1978
2. Ganglioside GM2 N-acetyl-β-d-galactosaminidase and asialo GM2 N-acetyl-β-d-galactosaminidase: studies in human skin fibroblasts;O'Brien;Clin Gen,1977
3. The metabolism of Tay-Sachs ganglioside: catabolic studies with lysosomal enzyme from normal and Tay-Sachs brain tissue;Tallman;J Clin Invest,1972
4. Heterogeneity of human hepatic N-acetyl-β-d-hexosaminidase A activity toward natural glycosphingolipid substrates;Bach;J Biol Chem,1975
5. Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease;Navon;Am J Hum gen,1973
Cited by 4 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
1. Classification of disorders of GM2 ganglioside hydrolysis using 3H-GM2 as substrate;Biochimica et Biophysica Acta (BBA) - General Subjects;1994-03
2. GM2-ganglioside metabolism in cultured human skin fibroblasts: unambiguous diagnosis of GM2-gangliosidosis;Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism;1985-04
3. Diagnosis of Tay-Sachs disease by estimation of β-N-acetylhexosaminidase activity using a radiolabeled hyaluronic acid-derived trisaccharide substrate;Clinica Chimica Acta;1984-02
4. Assay of the GM2-ganglioside cleaving hexosaminidase activity of skin fibroblasts for GM2-gangliosidoses;Clinica Chimica Acta;1983-11
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