Blar i Faculty of Medicine på forfatter "DasMahapatra, Pronabesh"
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Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues
Tøndel, Camilla; Thurberg, Beth L.; DasMahapatra, Pronabesh; Lyn, Nicole; Maski, Manish; Batista, Julie L.; George, Kelly; Patel, Hiren; Hariri, Ali (Journal article; Peer reviewed, 2022)Fabry disease (FD) is a rare lysosomal storage disorder, characterized by a reduction in α-galactosidase A enzyme activity and the progressive accumulation of globotriaosylceramide (GL3) and its metabolites in the cells ...