Literature DB >> 5031983

Clinical and enzymatic variations in G M1 generalized gangliosidosis.

H S Singer, I A Schafer.   

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Year:  1972        PMID： 5031983      PMCID： PMC1762258     

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


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  20 in total

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

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

2.  Beta-galactosidase deficiency in the hurler syndrome.

Authors:  M MacBrinn; S Okada; M Woollacott; V Patel; M W Ho; A L Tappel; J S O'Brien
Journal:  N Engl J Med       Date:  1969-08-14       Impact factor: 91.245

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.  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

5.  Glycosidases in the nervous system. 3. Separation, purification, and substrate specificities of beta-galactosidases and beta-glucuronidase from brain.

Authors:  F B Jungalwala; E Robins
Journal:  J Biol Chem       Date:  1968-08-25       Impact factor: 5.157

6.  Separation and properties of beta-galactosidase, beta-glucosidase, beta-glucuronidase and N-acetyl-beta-glucosaminidase from rat kidney.

Authors:  D Robinson; R G Price; N Dance
Journal:  Biochem J       Date:  1967-02       Impact factor: 3.857

7.  Isolation of beta-galactosidase and beta-glucosidase from brain.

Authors:  S Gatt; M M Rapport
Journal:  Biochim Biophys Acta       Date:  1966-03-07

8.  Generalized gangliosidosis: beta-galactosidase deficiency.

Authors:  S Okada; J S O'Brien
Journal:  Science       Date:  1968-05-31       Impact factor: 47.728

9.  Chemical pathology of G-m-1-gangliosidosis (generalized gangliosidosis).

Authors:  K Suzuki; S Kamoshita
Journal:  J Neuropathol Exp Neurol       Date:  1969-01       Impact factor: 3.685

10.  Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotien.

Authors:  M C MacBrinn; S Okada; M W Ho; C C Hu; J S O'Brien
Journal:  Science       Date:  1969-02-28       Impact factor: 47.728
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  7 in total

Review 1.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

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

Authors:  L Pinsky; J Miller; B Shanfield; G Watters; L S Wolfe
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

3.  Immunological studies of beta galactosidase in normal human liver and in GM1 gangliosidosis.

Authors:  M Meisler; M C Rattazzi
Journal:  Am J Hum Genet       Date:  1974-11       Impact factor: 11.025

4.  Generalized gangliosidosis type II (juvenile GM1 gangliosidosis). A pathological, histochemical and ultrastructural study.

Authors:  E F Gilbert; J Varakis; J M Opitz; G M ZuRhein; R Ware; C Viseskul; E G Kaveggia; H A Hartmann
Journal:  Z Kinderheilkd       Date:  1975-09-11

5.  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

6.  An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis.

Authors:  A G Norden; J S O'Brien
Journal:  Proc Natl Acad Sci U S A       Date:  1975-01       Impact factor: 11.205

7.  Uptake and metabolism of radiolabelled GM1-ganglioside in skin fibroblasts from controls and patients with GM1-gangliosidosis.

Authors:  M Midorikawa; K Inui; S Okada; H Yabuuchi; K Ogura; S Handa
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
  7 in total

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