The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease

Abstract Anderson-Fabry disease (AFD) is a multisystem X-linked lysosomal storage disorder caused by a deficiency in the enzyme α-galactosidase A (α-Gal A). This deficiency results in the intracellular accumulation of glycosphingolipids, primarily uncleaved globotriaosylceramide (Gb3) and its deacyl...

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Autores principales:	Gian Marco Berti, Valeria Aiello, Gisella Vischini, Sarah Lerario, Francesca Ciurli, Marisa Santostefano, Vincenzo Donadio, Elena Biagini, Michela Fresina, Benedetta Fabbrizio, Francesca Montanari, Daniela Turchetti, Gianandrea Pasquinelli, Renzo Mignani, Gaetano La Manna, Irene Capelli
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	BMC 2025-02-01
Colección:	BMC Nephrology
Materias:	Anderson-Fabry Disease Kidney biopsy Zebra bodies Genetic test
Acceso en línea:	https://doi.org/10.1186/s12882-025-04009-2
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