Fabry's disease: New concepts about its natural history, evolution and treatment, in relation to the findings of the Fabry Registry

Fabry disease is an inherited lysosomal storage disease caused by deficient activity of the lysosomal enzyme, ?-galactosidase A . Currently, enzyme replacement therapy (ERT) is the specific treatment and it is demonstrated that the early use of it modifies the natural history of the disease. The Fab...