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

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Pisani, Antonio, Imbriaco, Massimo, Zizzo, Carmela, Albeggiani, Giuseppe, Colomba, Paolo, Alessandro, Riccardo, Iemolo, Francesco, Duro, Giovanni
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2012
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3425126/
https://ncbi.nlm.nih.gov/pubmed/22682330
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2261-12-39
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