Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1973 May;25(3):287–293.

Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.

R Navon, B Padeh, A Adam
PMCID: PMC1762538  PMID: 4704860

Full text

PDF
293

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Friedland J., Schneck L., Saifer A., Pourfar M., Volk B. W. Identification of Tay-Sachs disease carriers by acrylamide gel electrophoresis. Clin Chim Acta. 1970 Jun;28(3):397–402. doi: 10.1016/0009-8981(70)90064-1. [DOI] [PubMed] [Google Scholar]
  2. Navon R., Padeh B. Prenatal diagnosis of Tay-Sachs genotypes. Br Med J. 1971 Oct 2;4(5778):17–20. doi: 10.1136/bmj.4.5778.17. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Navon R., Padeh B. Urinary test for identification of Tay-Sachs genotypes. J Pediatr. 1972 Jun;80(6):1026–1030. doi: 10.1016/s0022-3476(72)80020-9. [DOI] [PubMed] [Google Scholar]
  4. O'Brien J. S., Okada S., Chen A., Fillerup D. L. Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay. N Engl J Med. 1970 Jul 2;283(1):15–20. doi: 10.1056/NEJM197007022830104. [DOI] [PubMed] [Google Scholar]
  5. O'Brien J. S., Okada S., Fillerup D. L., Veath M. L., Adornato B., Brenner P. H., Leroy J. G. Tay-Sachs disease: prenatal diagnosis. Science. 1971 Apr 2;172(3978):61–64. doi: 10.1126/science.172.3978.61. [DOI] [PubMed] [Google Scholar]
  6. Okada S., O'Brien J. S. Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component. Science. 1969 Aug 15;165(3894):698–700. doi: 10.1126/science.165.3894.698. [DOI] [PubMed] [Google Scholar]
  7. Okada S., Veath M. L., Leroy J., O'Brien J. S. Ganglioside GM2 storage diseases: hexosaminidase deficiencies in cultured fibroblasts. Am J Hum Genet. 1971 Jan;23(1):55–61. [PMC free article] [PubMed] [Google Scholar]
  8. Okada S., Veath M. L., O'Brien J. S. Juvenile GM2 gangliosidosis: partial deficiency of hexosaminidase A. J Pediatr. 1970 Dec;77(6):1063–1065. doi: 10.1016/s0022-3476(70)80096-8. [DOI] [PubMed] [Google Scholar]
  9. Padeh B., Navon R. Diagnosis of Tay-Sachs disease by hexosaminidase activity in leukocytes and amniotic fluid cells. Isr J Med Sci. 1971 Feb;7(2):259–263. [PubMed] [Google Scholar]
  10. Robinson D., Stirling J. L. N-Acetyl-beta-glucosaminidases in human spleen. Biochem J. 1968 Apr;107(3):321–327. doi: 10.1042/bj1070321. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Sandhoff K. The hydrolysis of Tay-Sachs ganglioside (TSG) by human N-acetyl-beta-D-hexosaminidase A. FEBS Lett. 1970 Dec 18;11(5):342–344. doi: 10.1016/0014-5793(70)80564-6. [DOI] [PubMed] [Google Scholar]
  12. Schneck L., Valenti C., Amsterdam D., Friedland J., Adachi M., Volk B. W. Prenatal diagnosis of Tay-Sachs disease. Lancet. 1970 Mar 21;1(7647):582–584. doi: 10.1016/s0140-6736(70)91624-7. [DOI] [PubMed] [Google Scholar]
  13. Suzuki Y., Berman P. H., Suzuki K. Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes. J Pediatr. 1971 Apr;78(4):643–647. doi: 10.1016/s0022-3476(71)80467-5. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES