Tay-Sachs disease with altered beta-hexosaminidase B: a new variant?
- PMID: 25409
- DOI: 10.1203/00006450-197802000-00001
Tay-Sachs disease with altered beta-hexosaminidase B: a new variant?
Similar articles
-
Hexosaminidase C in Tay-Sachs and Sandhoff disease.Biochim Biophys Acta. 1975 May 23;391(1):162-9. doi: 10.1016/0005-2744(75)90162-x. Biochim Biophys Acta. 1975. PMID: 237554
-
Human hexosaminidase isozymes: chromatographic separation as an aid to heterozygote identification.Clin Chim Acta. 1977 Mar 1;75(2):181-91. doi: 10.1016/0009-8981(77)90189-9. Clin Chim Acta. 1977. PMID: 851488
-
A fully automated method for identification of Tay-Sachs disease carriers by tear beta-hexosaminidase assay.Prog Clin Biol Res. 1977;18:245-65. Prog Clin Biol Res. 1977. PMID: 23556 No abstract available.
-
Hexosaminidase A analysis of various biological fluids by pH inactivation for the identification of Tay-Sachs disease genotypes.Prog Clin Biol Res. 1977;18:227-38. Prog Clin Biol Res. 1977. PMID: 23555 No abstract available.
-
Approaches to the control and prevention of Tay-Sachs disease.Prog Med Genet. 1974;10:103-34. Prog Med Genet. 1974. PMID: 4620174 Review.
Cited by
-
Presence of an atypical thermolabile species of beta-hexosaminidase B in metastatic-tumour tissue of human liver.Biochem J. 1982 Jan 1;201(1):95-9. doi: 10.1042/bj2010095. Biochem J. 1982. PMID: 6211170 Free PMC article.
-
Hereditary heat-labile hexosaminidase B: a variant whose homozygotes synthesize a functional HEX A.Am J Hum Genet. 1985 Jan;37(1):138-46. Am J Hum Genet. 1985. PMID: 3156493 Free PMC article.
-
Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.Am J Hum Genet. 1985 Jul;37(4):733-40. Am J Hum Genet. 1985. PMID: 9556661 Free PMC article.
-
Biochemistry and genetics of gangliosidoses.Hum Genet. 1979;50(2):107-43. doi: 10.1007/BF00390234. Hum Genet. 1979. PMID: 116955 Review.
-
Apparent hexosaminidase B deficiency in two healthy members of a pedigree.Am J Hum Genet. 1979 Jul;31(4):428-38. Am J Hum Genet. 1979. PMID: 484551 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources