Abstract:Fabry disease (FD) is an X chromosome‐linked, life‐threatening lysosomal disease caused by one of more than 1000 currently known variants in the α ‐galactosidase A (GLA) gene. The follow‐up part of the Fabry Disease in Ostrobothnia (FAST) study reports the long‐term effect of enzyme replacement therapy (ERT) on a prospectively collected cohort of 12 patients, 4 males and 8 females, mean age 46 years (SD 16), with the classical variant c.679C > T p.Arg227Ter, which is one of the most common FD variants worldwide… Show more
“…Only in-depth screening programs of high-risk groups and the creation of networks between different specialties could improve diagnosis and therapy management [12,13]. In this context, the long-term effect of enzyme replacement therapy may delay the progression of the disease in Fabry patients [14].…”
“…Only in-depth screening programs of high-risk groups and the creation of networks between different specialties could improve diagnosis and therapy management [12,13]. In this context, the long-term effect of enzyme replacement therapy may delay the progression of the disease in Fabry patients [14].…”
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