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Fabry Disease p.M290I Mutation is Related to Organ Involvement: A Case Report

Fabry disease (FD) is an X-linked hereditary disease. It results from mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A (α-Gal A) and progressive accumulation of undegraded glycosphingolipids in cell lysosomes. Enzyme replacement therapy (ERT) can improve t...

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Detalles Bibliográficos
Autores principales:	Silva, Francisca, Pestana, Nicole, Durães, José, Guimarães Rosa, Nuno, Silva, Gil
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2021
Materias:	Cardiology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8065947/ https://www.ncbi.nlm.nih.gov/pubmed/33907643 http://dx.doi.org/10.7759/cureus.14100

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