Article
[Description of a new mutation in a female patient with Fabry disease].
Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology - 1 Oct 2011
Correia Emanuel, Vidinha Joana, Rodrigues Bruno, Santos Luís, Moreira Davide, Garrido Jesus, Clara Sá Miranda M, Cabral Costa, Santos Oliveira
Abstract excerpt
Fabry disease is caused by intracellular accumulation of glycosphingolipids in various tissues, secondary to mutations in the GLA gene (Xq22). Classically described as affecting hemizygous males with no residual alpha-galactosidase A activity, it is now known to affect both sexes, with later and less severe manifestations in females. The manifestations of this disease are systemic: neurological, cutaneous...
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