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PMID: 4025402 Published · ppublish English Journal Article

Krabbe disease: increased incidence in a highly inbred community.

American journal of medical genetics ·Vol. 21 ·No. 4 ·1985-08-00 ·Pages 765-70

Zlotogora J, Regev R, Zeigler M, Iancu TC, Bach G

Abstract

Krabbe disease (globoid cell leukodystrophy) was found with very high incidence (6/1,000 live births) in a large Druze kindred in Israel. The clinical data on 12 of the affected children demonstrated clinical variability even though these children are homozygous for the same mutation by descent from a common ancestor.

MeSH Terms
Age Factors Galactosylceramidase/deficiency Humans Inbreeding Israel Leukodystrophy, Globoid Cell/epidemiology,genetics Pedigree
Chemicals
Galactosylceramidase
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Zlotogora J
Regev R
Zeigler M
Iancu T C
Bach G
Article Info
Journal
American journal of medical genetics
Abbr.
Am J Med Genet
ISSN
0148-7299
Published
1985-08-00
Pages
765-70
Language
English
Region
United States
NLM ID
7708900
Subset
IM
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