Browsing NORCE Klima og miljø by Author "Babickova, Janka"
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Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype
Elsaid, Hassan Osman Alhassan; Furriol, Jessica; Blomqvist, Maria; Diswall, Mette; Leh, Sabine; Gharbi, Naouel; Anonsen, Jan Haug; Babickova, Janka; Tøndel, Camilla; Svarstad, Einar; Marti, Hans Peter; Krause, Maximilian (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 ...