Literature DB >> 7481431

Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study.

L H Castro1, M L Monteiro, E R Barbosa, M Scaff, H M Canelas.   

Abstract

An unusual case of a young woman, heterozygote for Fabry gene is reported, who presented bilateral thalamic infarcts due to occlusions of central nervous system vessels. Three other members of her family were studied. Fabry's disease (angiokeratoma corporis diffusum) is included among the rare causes of ischemic stroke in young adults.

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Year:  1994        PMID: 7481431     DOI: 10.1590/s1516-31801994000400007

Source DB:  PubMed          Journal:  Sao Paulo Med J        ISSN: 1516-3180            Impact factor:   1.044


  1 in total

1.  Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes.

Authors:  C Whybra; C Kampmann; I Willers; J Davies; B Winchester; J Kriegsmann; K Brühl; A Gal; S Bunge; M Beck
Journal:  J Inherit Metab Dis       Date:  2001-12       Impact factor: 4.982

  1 in total

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