Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.

American journal of human genetics ·Vol. 23 ·No. 1 ·1971-01-00 ·Pages 62-6

Beutler E, Kuhl W, Trinidad F, Teplitz R, Nadler H

Abstract

暂无摘要

MeSH Terms

Culture Media Culture Techniques Fibroblasts/enzymology Gaucher Disease/enzymology,genetics Glucosidases/analysis Heterozygote Homozygote Humans Hydrogen-Ion Concentration

Chemicals

Culture Media Glucosidases

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Beutler E

Kuhl W

Trinidad F

Teplitz R

Nadler H

References (6)

6 references, click to expand

Chromosomal distribution in interspecific invitro hybrid cells.
Exp Cell Res. 1968 Oct;52(2):379-91 PMID: 5693242
Tissue acid hydrolase activities in Gaucher's disease.
Scand J Clin Lab Invest. 1968;22(1):62-4 PMID: 5706652
Role of amniocentesis in the intrauterine detection of genetic disorders.
N Engl J Med. 1970 Mar 12;282(11):596-9 PMID: 4244215
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
Detection of Gaucher's disease and its carrier state from fibroblast cultures.
Lancet. 1970 Aug 15;2(7668):369 PMID: 4194474
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

Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1971-01-00

Pages

62-6

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1706631

Subset

External Links

PubMed source PMC Full Text View journal details

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Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.

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