A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

<p>Abstract</p> <p>Background</p> <p>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 glycosphin...

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Bibliographic Details
Main Authors: Pisani Antonio, Imbriaco Massimo, Zizzo Carmela, Albeggiani Giuseppe, Colomba Paolo, Alessandro Riccardo, Iemolo Francesco, Duro Giovanni
Format: Article
Language:English
Published: BMC 2012-06-01
Series:BMC Cardiovascular Disorders
Subjects:
Fabry disease
α-galactosidase A
GLA
Globotriaosylceramide
High resolution melting
Online Access:http://www.biomedcentral.com/1471-2261/12/39

Internet

http://www.biomedcentral.com/1471-2261/12/39

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