Literature DB >> 4025402

Krabbe disease: increased incidence in a highly inbred community.

J Zlotogora, R Regev, M Zeigler, T C Iancu, G Bach.   

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.

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Year:  1985        PMID： 4025402     DOI： 10.1002/ajmg.1320210420

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  9 in total

1.  Medical genetics in Israel.

Authors:  R M Goodman; B Bonne-Tamir; A Adam; R Voss; G Bach; Y Shiloh; M B Katznelson; G Barkai; B Goldman; B Padeh
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318

2.  A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.

Authors:  Ghunwa Nakouzi; Khalil Kreidieh; Soha Yazbek
Journal:  J Community Genet       Date:  2014-09-27

Review 3.  Krabbe Disease in the Arab World.

Authors:  Hatem Zayed
Journal:  J Pediatr Genet       Date:  2015-03

4.  Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.

Authors:  M A Rafi; P Luzi; J Zlotogora; D A Wenger
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

5.  Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics.

Authors:  E Leitersdorf; R Safadi; V Meiner; A Reshef; I Björkhem; Y Friedlander; S Morkos; V M Berginer
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

6.  Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis.

Authors:  R Oehlmann; J Zlotogora; D A Wenger; R G Knowlton
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

7.  A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect.

Authors:  D Landsberger; V Meiner; A Reshef; Y Levy; D R van der Westhuyzen; G A Coetzee; E Leitersdorf
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

8.  Krabbe disease locus mapped to chromosome 14 by genetic linkage.

Authors:  J Zlotogora; S Chakraborty; R G Knowlton; D A Wenger
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

Review 9.  Lifetime risk estimators in epidemiological studies of Krabbe Disease: Review and Monte Carlo comparison.

Authors:  Alexander H Foss; Patricia K Duffner; Randy L Carter
Journal:  Rare Dis       Date:  2013-05-30
  9 in total

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