Blar i NORCE vitenarkiv på tidsskrift "Molecular Genetics and Metabolism Reports"
Viser treff 1-1 av 1
-
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype
(Peer reviewed; Journal article, 2022)Fabry disease (FD) is a rare genetic lysosomal storage disorder, resulting from partial or complete lack of alpha-galactosidase A (α-GAL) enzyme, leading to systemic accumulation of substrate glycosphingolipids with a broad ...