Literature DB >> 4420522

GM1 gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observations on a third variant.

L Pinsky, J Miller, B Shanfield, G Watters, L S Wolfe.   

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Year:  1974        PMID： 4420522      PMCID： PMC1762717     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  18 in total

1.  Leukocyte beta-galactosidase activity in the diagnosis of generalized GM 1 gangliosidosis.

Authors:  H S Singer; G A Nankervis; I A Schafer
Journal:  Pediatrics       Date:  1972-03       Impact factor: 7.124

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

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

3.  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

4.  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

5.  Fractionation of j-methylumbelliferyl-beta-galactosidase activities in liver in gargoylism.

Authors:  P A Ockerman; B Hultberg
Journal:  Scand J Clin Lab Invest       Date:  1968       Impact factor: 1.713

6.  Beta-galactosidase in tissue culture derived from human skin and bone marrow. Enzyme defect in GM1 gangliosidosis.

Authors:  H R Sloan; B W Uhlendorf; C B Jacobson; D S Fredrickson
Journal:  Pediatr Res       Date:  1969-11       Impact factor: 3.756

7.  Stimulation of acid beta-galactosidase activity by chloride ions.

Authors:  M W Ho; J S O'Brien
Journal:  Clin Chim Acta       Date:  1970-11       Impact factor: 3.786

8.  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

9.  The electrophoretic separation of human -galactosidases on cellulose acetate.

Authors:  A L Fluharty; E L Lassila; M T Porter; H Kihara
Journal:  Biochem Med       Date:  1971-04

10.  Properties of 4-methylumbelliferyl-beta-galactosidase activities in human liver.

Authors:  B Hultberg; P A Ockerman
Journal:  Scand J Clin Lab Invest       Date:  1969-05       Impact factor: 1.713
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  15 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.  Glycosphingolipid hydrolases: properties and molecular genetics.

Authors:  M Wan Ho; A G Norden; J A Alhadeff; J S O'Brien
Journal:  Mol Cell Biochem       Date:  1977-10-07       Impact factor: 3.396

3.  Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes.

Authors:  S Palmeri; A T Hoogeveen; F W Verheijen; H Galjaard
Journal:  Am J Hum Genet       Date:  1986-02       Impact factor: 11.025

4.  The lesions of an ovine lysosomal storage disease. Initial characterization.

Authors:  R D Murnane; D J Prieur; A J Ahern-Rindell; S M Parish; L L Collier
Journal:  Am J Pathol       Date:  1989-02       Impact factor: 4.307

5.  Human minimal androgen insensitivity with normal dihydrotestosterone-binding capacity in cultured genital skin fibroblasts: evidence for an androgen-selective qualitative abnormality of the receptor.

Authors:  L Pinsky; M Kaufman; D W Killinger; B Burko; D Shatz; R Volpé
Journal:  Am J Hum Genet       Date:  1984-09       Impact factor: 11.025

6.  Male pseudohermaphroditism: diagnosis in cell culture.

Authors:  L Pinsky; M Kaufman; B Lambert; G Faucher; R Rosenfeld
Journal:  Can Med Assoc J       Date:  1977-06-04       Impact factor: 8.262

7.  The separation and characterization of the methylumbelliferyl beta-galactosidases of human liver.

Authors:  P S Cheetham; N E Dance
Journal:  Biochem J       Date:  1976-07-01       Impact factor: 3.857

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.  Reduced affinity of the androgen receptor for 5 alpha-dihydrotestosterone but not methyltrienolone in a form of partial androgen resistance. Studies on cultured genital skin fibroblasts.

Authors:  L Pinsky; M Kaufman; A E Chudley
Journal:  J Clin Invest       Date:  1985-04       Impact factor: 14.808

10.  The presence of a reduced amount of 32-kd "protective" protein is a distinct biochemical finding in late infantile galactosialidosis.

Authors:  P Strisciuglio; G Parenti; C Giudice; S Lijoi; A T Hoogeveen; A d'Azzo
Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132
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