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

• Main Authors: Valeria Di Stefano (Author), Marta Mancarella (Author), Antonia Camporeale (Author), Anna Regalia (Author), Marta Ferraresi (Author), Marco Pisaniello (Author), Elena Cassinerio (Author), Federico Pieruzzi (Author), Irene Motta (Author)
• Format: Book
• Published: MDPI AG, 2021-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...