Article
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report.
BMC cardiovascular disorders - 8 Jun 2012
Pisani Antonio, Imbriaco Massimo, Zizzo Carmela, Albeggiani Giuseppe, Colomba Paolo, Alessandro Riccardo, Iemolo Francesco, Duro Giovanni
Abstract excerpt
BACKGROUND: Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction. The incidence of disease is estimated at 1:40,000 in the general population, although...
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