Browsing Bergen Open Research Archive by Author "Hopkin, Robert J."
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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 ... -
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
Bichet, Daniel G; Hopkin, Robert J.; Aguiar, Patricio; Allam, Sridhar R; Chien, Yin-Hsiu; Giugliani, Roberto; Kallish, Staci; Kineen, Sabina; Lidove, Olivier; Niu, Dau-Ming; Olivotto, Iacopo; Politei, Juan Manuel; Rakoski, Paul; Torra, Roser; Tøndel, Camilla; Hughes, Derralynn A. (Journal article; Peer reviewed, 2023-09-01)Objective: Fabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation. The addition of the oral ...