The Role of Kidney Biopsy in Fabry Disease

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and subsequent accumulation of glycosphingolipids, including globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), in multiple organs. This acc...

Full description

Saved in:
Bibliographic Details
Main Authors: Irene Capelli, Laura Martano, Gian Marco Berti, Gisella Vischini, Sarah Lerario, Vincenzo Donadio, Alex Incensi, Valeria Aiello, Francesca Ciurli, Benedetta Fabbrizio, Stefano Chilotti, Renzo Mignani, Gianandrea Pasquinelli, Gaetano La Manna
Format: Article
Language:English
Published: MDPI AG 2025-03-01
Series:Biomedicines
Subjects:
Online Access:https://www.mdpi.com/2227-9059/13/4/767
Tags: Add Tag
No Tags, Be the first to tag this record!