Literature DB >> 5124584

[Enzymatic studies on the blood of carriers of a Tay-Sachs disease variant (variant O)].

K Harzer, K Sandhoff, H Schall, F Kollmann.   

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Year:  1971        PMID： 5124584     DOI： 10.1007/bf01732464

Source DB:  PubMed          Journal:  Klin Wochenschr        ISSN： 0023-2173


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  11 in total

1.  The hydrolysis of Tay-Sachs ganglioside (TSG) by human N-acetyl-beta-D-hexosaminidase A.

Authors:  K Sandhoff
Journal:  FEBS Lett       Date:  1970-12-18       Impact factor: 4.124

2.  Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease.

Authors:  K Sandhoff
Journal:  FEBS Lett       Date:  1969-08       Impact factor: 4.124

3.  The chemical structure of normal human brain and Tay-Sachs gangliosides.

Authors:  L SVENNERHOLM
Journal:  Biochem Biophys Res Commun       Date:  1962-11-27       Impact factor: 3.575

4.  N-acetylhexosaminidase activities in Tay-Sachs disease.

Authors:  B Hultberg
Journal:  Lancet       Date:  1969-11-29       Impact factor: 79.321

5.  Enzyme alterations and lipid storage in three variants of Tay-Sachs disease.

Authors:  K Sandhoff; K Harzer; W Wässle; H Jatzkewitz
Journal:  J Neurochem       Date:  1971-12       Impact factor: 5.372

6.  Deficient hexosaminidase 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:  Pathol Eur       Date:  1968

7.  Identification of Tay-Sachs disease carriers by acrylamide gel electrophoresis.

Authors:  J Friedland; L Schneck; A Saifer; M Pourfar; B W Volk
Journal:  Clin Chim Acta       Date:  1970-06       Impact factor: 3.786

8.  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

9.  Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood.

Authors:  J P Kampine; R O Brady; J N Kanfer; M Feld; D Shapiro
Journal:  Science       Date:  1967-01-06       Impact factor: 47.728

10.  [Tay-Sachs disease with hexosaminidase deficiency. Clinical, morphological and biochemical findings in a case with visceral storage of renal globosides].

Authors:  H Pilz; D Müller; K Sandhoff; V ter Meulen
Journal:  Dtsch Med Wochenschr       Date:  1968-09-27       Impact factor: 0.628
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  6 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

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

Review 2.  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

3.  Inheritance of the enzyme deficiency in three neurolipidoses: variant 0 of Tay-Sachs disease (Sandhoff's disease), classic Tay-Sachs disease, and metachromatic leukodystrophy. Identification of the heterozygous carriers.

Authors:  K Harzer
Journal:  Humangenetik       Date:  1973

4.  Sphingolipidoses.

Authors:  K Sandhoff
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

5.  Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.

Authors:  M C Rattazzi; J A Brown; R G Davidson; T B Shows
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025

6.  A family with combined Farber and Sandhoff, isolated Sandhoff and isolated fetal Farber disease: postnatal exclusion and prenatal diagnosis of Farber disease using lipid loading tests on intact cultured cells.

Authors:  T Levade; H Enders; M Schliephacke; K Harzer
Journal:  Eur J Pediatr       Date:  1995-08       Impact factor: 3.183
  6 in total

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