Am J Med Genet. 1985 Aug;21(4):765-70.

Krabbe disease: increased incidence in a highly inbred community.

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.

PMID:: 4025402; [PubMed - indexed for MEDLINE]

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Galactosylceramidase

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Medical

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Krabbe disease in Israel. [Isr J Med Sci. 1991]
Krabbe disease in Israel.
Zlotogora J, Levy-Lahad E, Legum C, Iancu TC, Zeigler M, Bach G. Isr J Med Sci. 1991 Apr; 27(4):196-8.
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. [Hum Genet. 1996]
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.
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[From gene to disease; Krabbe disease and galactosylceramidase deficiency].
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Review Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species.
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Review Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment.
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Cited by 5 PubMed Central articles

Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis. [Am J Hum Genet. 1993]
Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis.
Oehlmann R, Zlotogora J, Wenger DA, Knowlton RG. Am J Hum Genet. 1993 Dec; 53(6):1250-5.
Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics. [Am J Hum Genet. 1994]
Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics.
Leitersdorf E, Safadi R, Meiner V, Reshef A, Björkhem I, Friedlander Y, Morkos S, Berginer VM. Am J Hum Genet. 1994 Nov; 55(5):907-15.
Medical genetics in Israel. [J Med Genet. 1989]
Medical genetics in Israel.
Goodman RM, Bonne-Tamir B, Adam A, Voss R, Bach G, Shiloh Y, Katznelson MB, Barkai G, Goldman B, Padeh B. J Med Genet. 1989 Mar; 26(3):179-89.

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Krabbe disease: increased incidence in a highly inbred community.

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Cited by 5 PubMed Central articles

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