The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by
the absence of functional enzymes that contribute to the degradation of glycosaminoglycans …

Abstract Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive
disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase …

Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder
associated with skeletal and joint abnormalities and significant non‐skeletal manifestations …

Abstract Aims Anderson–Fabry disease (AFD) is an uncommon X-linked disorder caused by
deficient activity of the lysosomal enzyme α-galactosidase A. The Fabry Outcome Survey is a …

Objectives: We sought to define the prevalence of cardiac involvement in female patients
with Anderson–Fabry disease (AFD). Background: Anderson–Fabry disease is a rare inborn …

BACKGROUND: Cardiac involvement is responsible for substantial morbidity and mortality
in Anderson–Fabry disease (AFD). We sought to document its onset and progression in a …

Background Transcatheter closure of atrial septal defects is a new and less traumatic
technique than open heart surgery. In recent years, patients with a patent foramen ovale …

CONTEXT. Fabry disease is an X-linked multisystem disorder. Enzyme-replacement therapy
in adults has limited efficacy in treating major sequelae of advanced Fabry disease, such as …

Outcomes from 5 years of treatment with agalsidase alfa enzyme replacement therapy (ERT)
for Fabry disease in patients enrolled in the Fabry Outcome Survey (FOS) were compared …

Enzyme replacement therapy with α-galactosidase A has been used to treat Fabry disease
since 2001. This article reviews the published evidence for clinical efficacy of the two …