Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease

Background: Anderson–Fabry disease (AFD) is an X-linked disease that results from reduced activity of the enzyme galactosidase alpha (GLA). When the GLA gene sequence is altered by mutations that alter the normal DNA sequence, variants of the alpha-galactosidase A enzyme are produced, which may or m...

Descripción completa

Detalles Bibliográficos
Autores principales: Simonetta, Irene, Riolo, Renata, Todaro, Federica, Donadio, Vincenzo, Incensi, Alex, Tuttolomondo, Antonino
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10537954/
https://www.ncbi.nlm.nih.gov/pubmed/37779915
http://dx.doi.org/10.3389/fgene.2023.1122893

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10537954/
https://www.ncbi.nlm.nih.gov/pubmed/37779915
http://dx.doi.org/10.3389/fgene.2023.1122893

Ejemplares similares