Fabry Disease: A Atypical Presentation

Fabry Disease (FD) is a rare X-linked recessive disease caused by mutations in the GLA gene that lead to a decrease or lack of activity of the enzyme alpha galactosyl A. This lysosomal storage disorder results in progressive damage and dysfunction of several organs and, depending on the type of muta...

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Detalles Bibliográficos
Autores principales: Ferreira Tátá, Cláudia, Massas, Margarida, Pinto, Filipa, Caçador, Nuno, Silva, Ana Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8582620/
https://www.ncbi.nlm.nih.gov/pubmed/34790463
http://dx.doi.org/10.7759/cureus.18708

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8582620/
https://www.ncbi.nlm.nih.gov/pubmed/34790463
http://dx.doi.org/10.7759/cureus.18708

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