Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report

Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A activity and, consequently, to glycosphingolipid accumulation in a wide variety of cells. Fabry disease due to N215S (c.644A>G, p.Asn215Ser) missense mutation us...

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Detalles Bibliográficos
Autores principales: Di Stefano, Valeria, Mancarella, Marta, Camporeale, Antonia, Regalia, Anna, Ferraresi, Marta, Pisaniello, Marco, Cassinerio, Elena, Pieruzzi, Federico, Motta, Irene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8708478/
https://www.ncbi.nlm.nih.gov/pubmed/34959703
http://dx.doi.org/10.3390/ph14121304

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8708478/
https://www.ncbi.nlm.nih.gov/pubmed/34959703
http://dx.doi.org/10.3390/ph14121304

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