Blar i Faculty of Medicine på emneord "Tondel"
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Markers of nephropathy in young Fabry disease patients; role of kidney biopsies and functional measurements
(Doctoral thesis, 2013-04-05)Backgound: Fabry disease is an X-linked disease affecting glycosphingolipid metabolism due to deficiency of the lysosomal enzyme α-galactosidase. The natural course of the disease is related to progressive accumulation of ...