Literature DB >> 5028966

Fabry's disease: evidence for a physically altered -galactosidase.

M W Ho, S Beutler, L Tennant, J S O'Brien.   

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Year:  1972        PMID: 5028966      PMCID: PMC1762271     

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


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  12 in total

1.  Lysosomal hydrolases: Conversion of acidic to basic forms by neuraminidase.

Authors:  A Goldstone; P Konecny; H Koenig
Journal:  FEBS Lett       Date:  1971-02-12       Impact factor: 4.124

2.  FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID.

Authors:  C C SWEELEY; B KLIONSKY
Journal:  J Biol Chem       Date:  1963-09       Impact factor: 5.157

3.  Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts.

Authors:  M W Ho; J Seck; D Schmidt; M L Veath; W Johnson; R O Brady; J S O'Brien
Journal:  Am J Hum Genet       Date:  1972-01       Impact factor: 11.025

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.  Anomeric structure of globoside and ceramide grihexoside of human erythrocytes and hamster fibroblasts.

Authors:  S I Hakomori; B Siddiqui; Y T Li; S C Li; C G Hellerqvist
Journal:  J Biol Chem       Date:  1971-04-10       Impact factor: 5.157

6.  Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitro.

Authors:  M W Ho; J S O'Brien
Journal:  Proc Natl Acad Sci U S A       Date:  1971-11       Impact factor: 11.205

7.  Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.

Authors:  R O Brady; A E Gal; R M Bradley; E Martensson; A L Warshaw; L Laster
Journal:  N Engl J Med       Date:  1967-05-25       Impact factor: 91.245

8.  Tissue distribution of glycosphingolipids in a case of Fabry's disease.

Authors:  J M Schibanoff; S Kamoshita; J S O'Brien
Journal:  J Lipid Res       Date:  1969-09       Impact factor: 5.922

9.  N-Acetyl-beta-glucosaminidases in human spleen.

Authors:  D Robinson; J L Stirling
Journal:  Biochem J       Date:  1968-04       Impact factor: 3.857

10.  Fabry's disease: alpha-galactosidase deficiency.

Authors:  J A Kint
Journal:  Science       Date:  1970-02-27       Impact factor: 47.728

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  12 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.  X chromosome inactivation in female embryos of a marsupial mouse (Antechinus stuartii).

Authors:  P G Johnston; E S Robinson
Journal:  Chromosoma       Date:  1987       Impact factor: 4.316

Review 3.  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

4.  Isoenzymes of human liver alpha-L-fucosidase: chemical relationship, kinetic studies, and immunochemical characterization.

Authors:  J A Alhadeff; G Cimino; A Janowsky
Journal:  Mol Cell Biochem       Date:  1978-05-31       Impact factor: 3.396

5.  Variation in alpha-L-fucosidase properties among 28 inbred mouse strains: six strains have high enzyme activity and heat-stabile enzyme with a variant pH-activity curve; twenty-two strains have low activity and heat-labile enzyme.

Authors:  W G Johnson; J L Hong
Journal:  Biochem Genet       Date:  1986-06       Impact factor: 1.890

Review 6.  Some aspects of the cellular biochemistry of lysosomal and related glycosidases.

Authors:  O Touster
Journal:  Mol Cell Biochem       Date:  1973-12-15       Impact factor: 3.396

7.  Variability of -galactosidase A and B in different tissues of man.

Authors:  E Beutler; E Guinto; W Kuhl
Journal:  Am J Hum Genet       Date:  1973-01       Impact factor: 11.025

8.  Residual activity of alpha-galactosidase A in Fabry's disease.

Authors:  G Romeo; M D'Urso; A Pisacane; E Blum; A De Falco; A Ruffilli
Journal:  Biochem Genet       Date:  1975-10       Impact factor: 1.890

9.  Fibroblast alpha-galactosidase A activity for identification of Fabry's disease heterozygotes.

Authors:  A H Fensom; P F Benson; A R Grant; L Jacobs
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

10.  Hydrolysis of ceramide trihexoside by a specific -galactosidase from human liver.

Authors:  M W Ho
Journal:  Biochem J       Date:  1973-05       Impact factor: 3.857

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