Literature DB >> 4251893

Gm2-gangliosidosis with total hexosaminidase deficiency.

Y Suzuki, J C Jacob, K Suzuki, K M Kutty, K Suzuki.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1971        PMID： 4251893     DOI： 10.1212/wnl.21.4.313

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  15 in total

1.  Neuronal N-acetyl-beta-D-glucosaminidase. Evidence for its biosynthesis in vitro.

Authors:  J A Khawaja; O Z Sellinger
Journal:  Biochem J       Date:  1976-09-15       Impact factor: 3.857

Review 2.  Progress in investigations of sphingolipidoses.

Authors:  M Adachi; L Schneck; B W Volk
Journal:  Acta Neuropathol       Date:  1978-08-07       Impact factor: 17.088

3.  [Clinical and ultrastructural observations in a case of juvenile amaurotic idiocy with protracted course (author's transl)].

Authors:  G Ebhardt; J Cervós-Navarro; P Bürgel
Journal:  Arch Psychiatr Nervenkr (1970)       Date:  1973-11-27

4.  Gangliosidosis with total hexosaminidase deficiency: clinical, biochemical and ultrastructural studies and comparison with conventional cases of Tay-Sachs disease.

Authors:  G Fontaine; A Résibois; M Tondeur; G Jonniaux; J P Farriaux; W Voet; E Maillard; H Loeb
Journal:  Acta Neuropathol       Date:  1973-01-30       Impact factor: 17.088

5.  Animal model of human disease Gm2-gangliosidoses (amaurotic idiocies) types I, II, and 3.

Authors:  E Karbe
Journal:  Am J Pathol       Date:  1973-04       Impact factor: 4.307

6.  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

7.  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

8.  Gmi-gangliosidosis. A variant with high activity of hepatic neutral beta-galactosidase.

Authors:  Y Suzuki; T Hayakawa; M Yazaki; Y Hiratani
Journal:  Eur J Pediatr       Date:  1976-06-08       Impact factor: 3.183

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

10.  The AB-variant of GM2-gangliosidosis. Clinical, biochemical, and pathological studies of two patients.

Authors:  J E Goldman; T Yamanaka; I Rapin; M Adachi; K Suzuki; K Suzuki
Journal:  Acta Neuropathol       Date:  1980       Impact factor: 17.088
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.