Diagnosis of Hexosaminidase a Deficiency with Sulphated Substrate: Evidence for an alpha-Locus Genetic Compound in a Tay-Sachs Variant
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Springer US
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http://link.springer.com/content/pdf/10.1007/978-1-4613-1029-7_28.pdf
Reference13 articles.
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2. Beccari, T., Emiliani, C. Hosseini, R., Orlacchio, A. and Stirling, J.L. (1987) Intermediate forms of human β-N-acetylhexosaminidase lack activity towards 4-methylumbelliferyl-β-N-acetylglucosaminide-6-sulphate. Biochem. J. 244, 801–804.
3. Besley, G.T.N, and Broadhead, D.M. (1976) Studies on human N-acetyl-β-D-hexosaminidase C separated from neonatal brain. Biochem. J. 155, 205-208.
4. Besley, G.T.N., Broadhead, D.M and Young, J.A. (1987) GM2-gangliosidosis variant with altered substrate specificity: evidence for x-locus genetic compound. Case report. J. Inher. Metab. Dis. 10, 403–404.
5. Charrow, J. Inui, K. and Wenger, D.A. (1985) Late onset GM2-gangliosidosis: an x-locus genetic compound with near normal hexosaminidase activity. Clin. Genet. 27, 78–84.
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1. A case of the B1 variant of GM2-gangliosidosis;Journal of Inherited Metabolic Disease;1990-05
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