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PMID: 5028966 Published · ppublish English Journal Article

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

American journal of human genetics ·Vol. 24 ·No. 3 ·1972-05-00 ·Pages 256-66

Ho MW, Beutler S, Tennant L, O'Brien JS

Abstract

暂无摘要

MeSH Terms
Cell Fractionation Chromatography, Gel Electrophoresis, Starch Gel Fibroblasts/enzymology Galactosidases/isolation & purification Genes Glycolipids/metabolism Heterozygote Hot Temperature Humans Hydrogen-Ion Concentration Isoelectric Focusing Isoenzymes/isolation & purification Kinetics Lipid Metabolism, Inborn Errors/enzymology Liver/enzymology Molecular Weight Mutation Neuraminidase Syndrome
Chemicals
Glycolipids Isoenzymes Galactosidases Neuraminidase
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Ho M W
Beutler S
Tennant L
O'Brien J S
References (12)
12 references, click to expand
  1. Anomeric structure of globoside and ceramide grihexoside of human erythrocytes and hamster fibroblasts.
    J Biol Chem. 1971 Apr 10;246(7):2271-7 PMID: 5103071
  2. N-Acetyl-beta-glucosaminidases in human spleen.
    Biochem J. 1968 Apr;107(3):321-7 PMID: 5650361
  3. Lysosomal hydrolases: Conversion of acidic to basic forms by neuraminidase.
    FEBS Lett. 1971 Feb 12;13(1):68-72 PMID: 11945635
  4. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.
    N Engl J Med. 1967 May 25;276(21):1163-7 PMID: 6023233
  5. Fabry's disease: alpha-galactosidase deficiency.
    Science. 1970 Feb 27;167(3922):1268-9 PMID: 5411915
  6. Differential effect of chloride ions on -galactosidase isoenzymes: a method for separate assay.
    Clin Chim Acta. 1971 May;32(3):443-50 PMID: 5096955
  7. FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID.
    J Biol Chem. 1963 Sep;238:3148-50 PMID: 14081947
  8. Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitro.
    Proc Natl Acad Sci U S A. 1971 Nov;68(11):2810-3 PMID: 5288260
  9. Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts.
    Am J Hum Genet. 1972 Jan;24(1):37-45 PMID: 5012691
  10. Tissue distribution of glycosphingolipids in a case of Fabry's disease.
    J Lipid Res. 1969 Sep;10(5):515-20 PMID: 4309191
  11. Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.
    Science. 1970 Oct 9;170(3954):180-1 PMID: 5466114
  12. Biochemical and electrophoretic studies of -galactosidase in normal man, in patients with Fabry's disease, and in Equidae.
    Am J Hum Genet. 1972 May;24(3):237-49 PMID: 5028964
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1972-05-00
Pages
256-66
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1762271
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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