Diagnosing Fabry nephropathy: the challenge of multiple kidney disease

Fabry disease (FD) is an X-linked inherited lysosomal disorder due to a deficiency of the enzyme alpha-galactosidase A (α-gla) due to mutations in the GLA gene. These mutations result in plasma and lysosome accumulation of glycosphingolipids, leading to progressive organ damage and reduced life expe...

Descripción completa

Detalles Bibliográficos
Autores principales: Esposito, Pasquale, Caputo, Carmela, Repetto, Monica, Somaschini, Alberto, Pietro, Bellone, Colomba, Paolo, Zizzo, Carmela, Parodi, Angelica, Zanetti, Valentina, Canepa, Marco, Eustachi, Virginia, Sanguineri, Francesca, Mandich, Paola, Viazzi, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664682/
https://www.ncbi.nlm.nih.gov/pubmed/37990184
http://dx.doi.org/10.1186/s12882-023-03388-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664682/
https://www.ncbi.nlm.nih.gov/pubmed/37990184
http://dx.doi.org/10.1186/s12882-023-03388-8

Ejemplares similares