Literature DB >> 4785164

On the molecular basis of Sandhoff's disease.

H H Ropers, U Schwantes.   

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Year:  1973        PMID: 4785164     DOI: 10.1007/bf00284854

Source DB:  PubMed          Journal:  Humangenetik        ISSN: 0018-7348


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  6 in total

1.  Hexosaminidase-A and hexosaminidase-B: studies in Tay-Sachs' and Sandhoff's disease.

Authors:  S K Srivastava; E Beutler
Journal:  Nature       Date:  1973-02-16       Impact factor: 49.962

2.  Deficient hexozaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.

Authors:  K Sandhoff; U Andreae; H Jatzkewitz
Journal:  Life Sci       Date:  1968-03-15       Impact factor: 5.037

3.  Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.

Authors:  J S O'Brien; S Okada; A Chen; D L Fillerup
Journal:  N Engl J Med       Date:  1970-07-02       Impact factor: 91.245

4.  Independent loss of human hexosaminidases A and B in man-chinese hamster somatic cell hybrids.

Authors:  H van Someren
Journal:  Humangenetik       Date:  1973-04-16

5.  N-Acetyl-beta-glucosaminidases in human spleen.

Authors:  D Robinson; J L Stirling
Journal:  Biochem J       Date:  1968-04       Impact factor: 3.857

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

Authors:  S Okada; J S O'Brien
Journal:  Science       Date:  1969-08-15       Impact factor: 47.728

  6 in total
  11 in total

Review 1.  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

2.  Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).

Authors:  J U Ikonne; M C Rattazzi; R J Desnick
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

3.  Studies on human N-acetyl-Beta-d-hexosaminidase C separated from neonatal brain.

Authors:  G T Besley; D M Broadhead
Journal:  Biochem J       Date:  1976-04-01       Impact factor: 3.857

Review 4.  The biochemical genetics of the hexosaminidase system in man.

Authors:  E Beutler
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

5.  Enzyme electrophoresis on cellulose acetate gel. II. Zymogram patterns in man-Chinese hamster somatic cell hybrids.

Authors:  H van Someren; H Beijersbergen van Henegouwen; W Los; E Wurzer-Figurelli; B Doppert; M Vervloet; P Meera Khan
Journal:  Humangenetik       Date:  1974

6.  Complementation after fusion of Sandhoff- and Tay-Sachs fibroblasts.

Authors:  H H Ropers; K H Grzeschik; E Bühler
Journal:  Humangenetik       Date:  1975

7.  The expression of hex A and hex B isozymes of hexosaminidase in parental and experimental human fibroblast cells and their components.

Authors:  M T Bladon
Journal:  Biochem Genet       Date:  1981-10       Impact factor: 1.890

8.  Juvenile Sandhoff disease: some properties of the residual hexosaminidase in cultured fibroblasts.

Authors:  S Wood; B G MacDougall
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

9.  Characterization of beta-D-N-acetylhexosaminidase isoenzymes in man-Chinese hamster somatic cell hybrids.

Authors:  H L Hoeksema; A J Reuser; A Hoogeveen; A Westerveld; I Braidman; D Robinson
Journal:  Am J Hum Genet       Date:  1977-01       Impact factor: 11.025

10.  Characterization of residual hexosaminidase activity in Sandhoff's disease using man-Chinese hamster cell hybrids.

Authors:  H L Hoeksema; A J Reuser; A T Hoogeveen; A Westerveld; H Galjaard
Journal:  Hum Genet       Date:  1977-12-23       Impact factor: 4.132

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