Fabry Disease in women: Genetic basis, available biomarkers, and clinical manifestations

R Izhar, M Borriello, A La Russa, R Di Paola, A De… - Genes, 2023 - mdpi.com
Fabry Disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA
gene on the X chromosome, leading to a deficiency in α-galactosidase A (AGAL) enzyme …

Dapaglifozin on albuminuria in chronic kidney disease patients with Fabry disease: the DEFY study design and protocol

Y Battaglia, F Bulighin, L Zerbinati, N Vitturi… - Journal of Clinical …, 2023 - mdpi.com
Fabry disease (FD) is a rare genetic disorder caused by a deficiency in the α-galactosidase
A enzyme, which results in the globotriaosylceramide accumulation in many organs …