Article
Pulmonary manifestations and the effectiveness of enzyme replacement therapy in Fabry Disease with the p. Arg227Ter (p.R227*) mutation.
Molecular genetics & genomic medicine - 1 May 2022
Pietilä-Effati Päivi, Söderström Johan, Saarinen Jukka T, Löyttyniemi Eliisa, Kantola Ilkka
Abstract excerpt
BACKGROUND: Fabry disease (FD) is caused by a defect in α-galactosidase A gene (GLA) which leads to a progressive accumulation of neutral shingolipids, mainly globotriaosylceramide and its metabolites in several organs. Pulmonary manifestations of FD mimic chronic obstructive pulmonary disease and are disproportionate to smoking status. The effect of enzyme replacement therapy (ERT) on pulmonary function is...
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