Literature DB >> 5057290

Sandhoff's disease (GM 2 gangliosidosis type 2): clinical, chemical, and enzyme studies in five patients.

S Okada, M McCrea, J S O'Brien.   

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Year:  1972        PMID： 5057290

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


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  9 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.  The biochemical genetics of the hexosaminidase system in man.

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

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.  Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon.

Authors:  V M Der Kaloustian; M J Khoury; R Hallal; Z H Idriss; M E Deeb; N W Wakid; F S Haddad
Journal:  Am J Hum Genet       Date:  1981-01       Impact factor: 11.025

5.  [Juvenile GM2 gangliosidosis with altered substrate specificity of hexosaminidase A (author's transl)].

Authors:  J Zerfowski; K Sandhoff
Journal:  Acta Neuropathol       Date:  1974-03-26       Impact factor: 17.088

6.  Sphingolipidoses.

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

7.  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

8.  Glycopeptide storage in skin fibroblasts cultured from a patient with alpha-mannosidase deficiency.

Authors:  G C Tsay; G Dawson; R Matalon
Journal:  J Clin Invest       Date:  1975-09       Impact factor: 14.808

9.  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
  9 in total

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