Article
[Contribution of genotyping in Fabry's disease].
La Revue de medecine interne - 1 Dec 2010
Froissart R, Piraud M, Maire I
Abstract excerpt
Fabry's disease is an X-linked disorder due to mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A. Clinically, most patients present with the "classical" form, though "variant" forms with inaugural or preminent heart or kidney involvement have been described. Heterozygous women are most often symptomatic though generally less severely affected than men. We performed mutation analysis in...
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