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PMID: 5012691 Published · ppublish English Journal Article

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

American journal of human genetics ·Vol. 24 ·No. 1 ·1972-01-00 ·Pages 37-45

Ho MW, Seck J, Schmidt D, Veath ML, Johnson W, Brady RO, O'Brien JS

Abstract

暂无摘要

MeSH Terms
Biopsy Buffers Cells, Cultured Cerebrosides/analysis Female Fibroblasts/drug effects,enzymology Galactosidases/analysis Gaucher Disease/diagnosis,enzymology,genetics Genes, Recessive Glucosidases/analysis Heterozygote Hexosaminidases/analysis Homozygote Humans Hydrogen-Ion Concentration Male Pedigree Skin/enzymology Surface-Active Agents/pharmacology
Chemicals
Buffers Cerebrosides Surface-Active Agents Galactosidases Glucosidases Hexosaminidases
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Ho M W
Seck J
Schmidt D
Veath M L
Johnson W
Brady R O
O'Brien J S
References (9)
9 references, click to expand
  1. Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leucocytes.
    Lancet. 1970 Mar 21;1(7647):612-3 PMID: 4190558
  2. Identity of beta-glucosidase, beta-xylosidase and one of the beta-galactosidase activities in human liver when assayed with 4-methylumbelliferyl-beta-D-glycosides studies in cases of Gaucher's disease.
    Biochim Biophys Acta. 1968 Aug 6;165(1):59-62 PMID: 5672844
  3. Separation and properties of beta-galactosidase, beta-glucosidase, beta-glucuronidase and N-acetyl-beta-glucosaminidase from rat kidney.
    Biochem J. 1967 Feb;102(2):525-32 PMID: 6029611
  4. The sphingolipidoses.
    N Engl J Med. 1966 Aug 11;275(6):312-8 PMID: 5940695
  5. Sphingolipid hydrolases in brain tissue of patients with generalized gangliodosis.
    Biochim Biophys Acta. 1970 Jun 9;210(1):193-5 PMID: 5460531
  6. METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.
    Biochem Biophys Res Commun. 1965 Jan 18;18:221-5 PMID: 14282020
  7. GAUCHER'S DISEASE. HEREDITARY TRANSMISSION AND RACIAL DISTRIBUTION.
    Arch Intern Med. 1964 Apr;113:543-9 PMID: 14109014
  8. Protein measurement with the Folin phenol reagent.
    J Biol Chem. 1951 Nov;193(1):265-75 PMID: 14907713
  9. Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.
    Am J Hum Genet. 1971 Jan;23(1):62-6 PMID: 5581982
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1972-01-00
Pages
37-45
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1762143
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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