Literature DB >> 819272

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

Y Suzuki, T Hayakawa, M Yazaki, Y Hiratani.   

Abstract

A case of GM1-gangliosidosis with high activity of hepatic neutral beta-galactosidase is reported. GM1-beta-galactosidase was deficient. Ganglioside GM1 was accumulated in the liver of this patient. Clinically this Japanese girl started convulsive seizures at 5 months of age, had hepatomegaly, and macular cherry-red spots, but lacked gargoylelike clinical characteristics. Correlation of clinical and biochemical data is discussed.

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Year:  1976        PMID： 819272     DOI： 10.1007/BF00463735

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  19 in total

1.  Juvenile GM1 gangliosidosis. Occurrence with absence of two beta-galactosidase components.

Authors:  J A Lowden; J W Callahan; M G Norman; M Thain; J S Prichard
Journal:  Arch Neurol       Date:  1974-09

2.  The abnormalities of lysosomal enzymes in mucopolysacc- haridoses.

Authors:  F Van Hoof; H G Hers
Journal:  Eur J Biochem       Date:  1968-12

3.  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

4.  G-M1-gangliosidosis. Correlation of clinical and biochemical data.

Authors:  Y Suzuki; A C Crocker; K Suzuki
Journal:  Arch Neurol       Date:  1971-01

5.  Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types.

Authors:  D M Derry; J S Fawcett; F Andermann; L S Wolfe
Journal:  Neurology       Date:  1968-04       Impact factor: 9.910

6.  Clinical and enzymatic variations in G M1 generalized gangliosidosis.

Authors:  H S Singer; I A Schafer
Journal:  Am J Hum Genet       Date:  1972-07       Impact factor: 11.025

7.  Differential effect of chloride ions on -galactosidase isoenzymes: a method for separate assay.

Authors:  M W Ho; J S O'Brien
Journal:  Clin Chim Acta       Date:  1971-05       Impact factor: 3.786

8.  Ultrastructural and biochemical studies of Schilder's disease. II. Biochemistry.

Authors:  Y Suzuki; S H Tucker; L B Rorke; K Suzuki
Journal:  J Neuropathol Exp Neurol       Date:  1970-07       Impact factor: 3.685

9.  GM1-gangliosidosis types 1 and 2: enzymatic differences in cultured fibroblasts.

Authors:  L Pinsky; E Powell; J Callahan
Journal:  Nature       Date:  1970-12-12       Impact factor: 49.962

10.  Enzymatic study of GM-1 gangliosidosis.

Authors:  T Yutaka; S Okada; K Mimaki; T Sugita; H Yabuuchi
Journal:  Clin Chim Acta       Date:  1975-03-24       Impact factor: 3.786
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  2 in total

1.  Intestinal neuronal degeneration in a patient with chronic idiopathic intestinal pseudoobstruction.

Authors:  R Schuster; P Ferenci; M Schmidbauer; G Lassmann; A Kiss; S Frotz; A Gangl
Journal:  Dig Dis Sci       Date:  1989-01       Impact factor: 3.199

2.  beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature.

Authors:  Y Suzuki; N Nakamura; K Fukuoka; Y Shimada; M Uono
Journal:  Hum Genet       Date:  1977-04-15       Impact factor: 4.132
  2 in total

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