Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1973 Jul;25(4):372–381.

Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman.

J Vidgoff, N R Buist, J S O'Brien
PMCID: PMC1762453  PMID: 4716656

Full text

PDF
372

Selected References

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

  1. Caygill J. C., Roston C. P., Jevons F. R. Purification of beta-acetylglucosaminase and beta-galactosidase from ram testis. Biochem J. 1966 Feb;98(2):405–409. doi: 10.1042/bj0980405. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Clausen J., Melchior J. C., Paerregaard P. Enzymic differentiation between different types of Tay-Sachs disease of similar clinical appearance. Eur Neurol. 1972;7(1):56–64. doi: 10.1159/000114412. [DOI] [PubMed] [Google Scholar]
  3. DAVIS B. J. DISC ELECTROPHORESIS. II. METHOD AND APPLICATION TO HUMAN SERUM PROTEINS. Ann N Y Acad Sci. 1964 Dec 28;121:404–427. doi: 10.1111/j.1749-6632.1964.tb14213.x. [DOI] [PubMed] [Google Scholar]
  4. Dance N., Price R. G., Robinson D. Differential assay of human hexosaminidases A and B. Biochim Biophys Acta. 1970 Dec 29;222(3):662–664. doi: 10.1016/0304-4165(70)90193-5. [DOI] [PubMed] [Google Scholar]
  5. Dance N., Price R. G., Robinson D., Stirling J. L. Beta-galactosidase, beta-glucosidase and N-acetyl-beta-glucosaminidase in human kidney. Clin Chim Acta. 1969 May;24(2):189–197. doi: 10.1016/0009-8981(69)90311-8. [DOI] [PubMed] [Google Scholar]
  6. Delvin E. E., Scriver C. R., Pottier A., Clow C. L., Goldman H. Maladie de Tay-Sachs: dépistage et diagnostic prénatal. Union Med Can. 1972 Apr;101(4):683–688. [PubMed] [Google Scholar]
  7. FOLCH J., LEES M., SLOANE STANLEY G. H. A simple method for the isolation and purification of total lipides from animal tissues. J Biol Chem. 1957 May;226(1):497–509. [PubMed] [Google Scholar]
  8. 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]
  9. Hooghwinkel G. J., Veltkamp W. A., Overdijk B., Lisman J. J. Electrophoretic separation of -N-acetylhexosaminidases of human and bovine brain and liver and of Tay-Sachs brain tissue. Hoppe Seylers Z Physiol Chem. 1972 May;353(5):839–841. [PubMed] [Google Scholar]
  10. Hultberg B. N-acetylhexosaminidase activities in Tay-Sachs disease. Lancet. 1969 Nov 29;2(7631):1195–1195. doi: 10.1016/s0140-6736(69)92520-3. [DOI] [PubMed] [Google Scholar]
  11. Kampine J. P., Brady R. O., Kanfer J. N., Feld M., Shapiro D. Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood. Science. 1967 Jan 6;155(3758):86–88. doi: 10.1126/science.155.3758.86. [DOI] [PubMed] [Google Scholar]
  12. Kolodny E. H., Brady R. O., Volk B. W. Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease. Biochem Biophys Res Commun. 1969 Oct 22;37(3):526–531. doi: 10.1016/0006-291x(69)90947-4. [DOI] [PubMed] [Google Scholar]
  13. LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
  14. Navon R., Padeh B., Adam A. Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease. Am J Hum Genet. 1973 May;25(3):287–293. [PMC free article] [PubMed] [Google Scholar]
  15. 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]
  16. 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]
  17. 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]
  18. Robinson D., Jordan T. W., Horsburgh T. The N-acetyl- -D-hexosaminidases of calf and human brain. J Neurochem. 1972 Aug;19(8):1975–1985. doi: 10.1111/j.1471-4159.1972.tb01487.x. [DOI] [PubMed] [Google Scholar]
  19. 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]
  20. SVENNERHOLM L. Quantitative estimation of sialic acids. II. A colorimetric resorcinol-hydrochloric acid method. Biochim Biophys Acta. 1957 Jun;24(3):604–611. doi: 10.1016/0006-3002(57)90254-8. [DOI] [PubMed] [Google Scholar]
  21. Sandhoff K., Andreae U., Jatzkewitz H. Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Pathol Eur. 1968;3(2):278–285. [PubMed] [Google Scholar]
  22. Sandhoff K., Harzer K., Wässle W., Jatzkewitz H. Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. J Neurochem. 1971 Dec;18(12):2469–2489. doi: 10.1111/j.1471-4159.1971.tb00204.x. [DOI] [PubMed] [Google Scholar]
  23. 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]
  24. Sandhoff K., Wässle W. Anreicherung und Charakterisierung zweier Formen der menschlichen N-acetyl- -D-hexosaminidase. Hoppe Seylers Z Physiol Chem. 1971 Aug;352(8):1119–1133. [PubMed] [Google Scholar]
  25. Tallman J. F., Johnson W. G., Brady R. O. The metabolism of Tay-Sachs ganglioside: catabolic studies with lysosomal enzymes from normal and Tay-Sachs brain tissue. J Clin Invest. 1972 Sep;51(9):2339–2345. doi: 10.1172/JCI107045. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Yoshikawa J., Koide H., Yamanaka M. Demonstration of the multiplicity of N-acetyl-beta-glucosaminidase by electrophoresis. Biochem Biophys Res Commun. 1972 Jan 14;46(1):11–15. doi: 10.1016/0006-291x(72)90622-5. [DOI] [PubMed] [Google Scholar]

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

RESOURCES