Literature DB >> 4776531

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.

K Harzer.   

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Year:  1973        PMID： 4776531     DOI： 10.1007/bf00280871

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


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  19 in total

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

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

2.  EVIDENCE FOR THE GENETIC BLOCK IN METACHROMATIC LEUCODYSTROPHY (ML).

Authors:  E MEHL; H JATZKEWITZ
Journal:  Biochem Biophys Res Commun       Date:  1965-05-03       Impact factor: 3.575

3.  Ganglioside storage diseases.

Authors:  J S O'Brien; S Okada; M W Ho; D L Fillerup; M L Veath; K Adams
Journal:  Fed Proc       Date:  1971 May-Jun

4.  Age-dependent variations of the human N-acetyl- -D-hexosaminidases.

Authors:  K Harzer; K Sandhoff
Journal:  J Neurochem       Date:  1971-11       Impact factor: 5.372

5.  Gm2-gangliosidosis with total hexosaminidase deficiency.

Authors:  Y Suzuki; J C Jacob; K Suzuki; K M Kutty; K Suzuki
Journal:  Neurology       Date:  1971-04       Impact factor: 9.910

6.  [Oligosaccharide excretion in a case of GM 2 gangliosidosis due to total N-acetylhexosaminidase deficiency].

Authors:  G Strecker; J Montreuil
Journal:  Clin Chim Acta       Date:  1971-07       Impact factor: 3.786

7.  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

8.  Deficiency of arylsulphatase A in leucocytes and skin fibroblasts in juvenile machromatic leucodystrophy.

Authors:  J G Leroy; J Dumon; J Radermecker
Journal:  Nature       Date:  1970-05-09       Impact factor: 49.962

9.  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

10.  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
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  7 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

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

2.  The nature of the residual alpha-mannosidase in plasma in bovine mannosidosis.

Authors:  B G Winchester; N S Van-de-Water; R D Jolly
Journal:  Biochem J       Date:  1976-07-01       Impact factor: 3.857

3.  [Clinical and histological diagnosis of a case of familial adult metachromatic leucodystrophy (author's transl)].

Authors:  E Czmok; F Regli; A Bischoff; K Harzer; H U Benz
Journal:  J Neurol       Date:  1974       Impact factor: 4.849

4.  Sphingolipidoses.

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

5.  [Glucocerebrosidase deficiency and tentative identification of heterozygous carriers in a family with Gaucher's disease type I (author's transl)].

Authors:  K Harzer
Journal:  Klin Wochenschr       Date:  1974-12-15

6.  [Metachromatic leucodystrophy. A genetic study of a familial adult form of metachromatic leucodystrophy (author's transl)].

Authors:  E Czmok; F Regli; K Harzer; H U Benz
Journal:  Arch Psychiatr Nervenkr (1970)       Date:  1974

7.  Genetic variation of hexosaminidase A and arylsulfatase A activity. Correlation study in amnio-maternal pairs of cultured cells.

Authors:  K Harzer; K Hayashi
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  7 in total

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