Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation

BACKGROUND: Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy. OBJECTIVE: To estimate the prevalence of Fabry disease in a population wi...

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Detalles Bibliográficos
Autores principales: Baptista, Ana, Magalhães, Pedro, Leão, Sílvia, Carvalho, Sofia, Mateus, Pedro, Moreira, Ilídio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Cardiologia 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559122/
https://www.ncbi.nlm.nih.gov/pubmed/26269958
http://dx.doi.org/10.5935/abc.20150090

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559122/
https://www.ncbi.nlm.nih.gov/pubmed/26269958
http://dx.doi.org/10.5935/abc.20150090

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