Blar i Bergen Open Research Archive på forfatter "Kantola, Ilkka"
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Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry registry
Hopkin, Robert J.; Cabrera, Gustavo; Jefferies, John; Yang, Meng; Ponce, Elvira; Brand, Eva; Feldt-Rasmussen, Ulla; Germain, Dominique P.; Guffon, Nathalie; Jovanovic, Ana; Kantola, Ilkka; Karaa, Amel; Martins, Ana; Tøndel, Camilla; Wilcox, William R; Yoo, Han-Wook; Burlina, Alessandro; Mauer, Michael (Journal article; Peer reviewed, 2023)Background Clinical manifestations of classic Fabry disease (α-galactosidase A deficiency) usually occur in childhood, while complications involving major organs typically develop in adulthood. Outcomes of Fabry-specific ... -
An expert consensus on the recommendations for the use of biomarkers in Fabry disease
Burlina, Allesandro; Brand, Eva; Hughes, Derralynn A.; Kantola, Ilkka; Krämer, Johannes; Nowak, Albina; Tøndel, Camilla; Wanner, Christoph; Spada, Marco (Journal article; Peer reviewed, 2023)Fabry disease is an X-linked lysosomal storage disorder caused by the accumulation of glycosphingolipids in various tissues and body fluids, leading to progressive organ damage and life-threatening complications. Phenotypic ...