Literature DB >> 5793973

Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.

S Okada, J S O'Brien.   

Abstract

Two hexosaminidase components, separable by starch-gel electrophoresis and possessing both beta-D-N-acetylglucosaminidase and beta-D-N-acetylgalactosaminidase activity, are present in human tissues. One of these, hexosaminidase component A, is absent in brain, liver, kidney, skin, cultured skin fibroblasts, blood plasma, and leukocytes from nine patients with Tay-Sachs disease. Hexosaminidase assay may facilitate the early diagnosis of individuals homozygous for Tay-Sachs disease.

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Year:  1969        PMID： 5793973     DOI： 10.1126/science.165.3894.698

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  141 in total

1.  Strategies for the prevention of mental retardation.

Authors:  Z A Stein
Journal:  Bull N Y Acad Med       Date:  1975-01

Review 2.  Biochemistry and genetics of gangliosidoses.

Authors:  K Sandhoff; H Christomanou
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

3.  Purification of two hexosaminidases from human kidney.

Authors:  D V Marinkovic; J N Marinkovic
Journal:  Biochem J       Date:  1977-04-01       Impact factor: 3.857

4.  The interaction of N-acetylhexosaminidase with insolubilized concanavalin A.

Authors:  M G Brattain; P M Kimball; T G Pretlow; M E Marks
Journal:  Biochem J       Date:  1977-05-01       Impact factor: 3.857

Review 5.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

6.  N-acetyl-beta-d-glucosaminidase in marmoset kidney, serum and urine.

Authors:  R J Pierce; R G Price; J S Fowler
Journal:  Biochem J       Date:  1978-12-01       Impact factor: 3.857

7.  Kinetics and thermodynamic transitions of N-acetyl-beta-D-glucosaminidase A and B in free and bound forms: role of cellulose ion-exchangers.

Authors:  G S Gupta; R Raina
Journal:  Mol Cell Biochem       Date:  1989-03-16       Impact factor: 3.396

8.  Ashkenazi Jews and breast cancer: the consequences of linking ethnic identity to genetic disease.

Authors:  Sherry I Brandt-Rauf; Victoria H Raveis; Nathan F Drummond; Jill A Conte; Sheila M Rothman
Journal:  Am J Public Health       Date:  2006-10-03       Impact factor: 9.308

9.  An alteration in glucose metabolism associated with a defect in ketone body metabolism.

Authors:  J T Tildon
Journal:  Proc Natl Acad Sci U S A       Date:  1973-01       Impact factor: 11.205

10.  Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.

Authors:  Braden Fitterer; Patricia Hall; Nick Antonishyn; Rajagopal Desikan; Michael Gelb; Denis Lehotay
Journal:  Mol Genet Metab       Date:  2014-01-13       Impact factor: 4.797
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