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 ac...

Source: BMC Nephrology - November 21, 2023 Category: Urology & Nephrology Authors: Pasquale Esposito, Carmela Caputo, Monica Repetto, Alberto Somaschini, Bellone Pietro, Paolo Colomba, Carmela Zizzo, Angelica Parodi, Valentina Zanetti, Marco Canepa, Virginia Eustachi, Francesca Sanguineri, Paola Mandich and Francesca Viazzi Tags: Review Source Type: research