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...

Descripción completa

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

Internet

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

Ejemplares similares