Pulmonary manifestations and the effectiveness of enzyme replacement therapy in Fabry Disease with the p. Arg227Ter (p.R227*) mutation.
Päivi Pietilä-EffatiJohan SöderströmJukka T SaarinenEliisa LöyttyniemiIlkka KantolaPublished in: Molecular genetics & genomic medicine (2022)
In nonsmokers, pulmonary manifestations in classical FD are mild and might be stabilized by ERT.