Background Fabry disease, an inherited lysosomal storage disorder, causes multi-organ
pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry …

Fabry disease is an X-linked inherited lysosomal disorder that causes accumulation of
glycosphingolipids in body fluids and tissues, leading to progressive organ damage and …

Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA
gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life …

Fabry disease is an X-linked lysosomal storage disorder caused by the accumulation of
glycosphingolipids in various tissues and body fluids, leading to progressive organ damage …

Objective Current available evidence on long-term effectiveness of enzyme replacement
therapy (ERT) for Fabry disease is limited. More insight is needed whether ERT …

Fabry disease is an X-linked metabolic storage disorder due to the deficiency of lysosomal α-
galactosidase A, and the subsequent accumulation of glycosphingolipids, primarily …

Background Enzyme replacement therapy (ERT) with recombinant human α-galactosidase
has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the …

Introduction Fabry disease (FD) is a lysosomal storage disorder resulting in progressive
nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or …

Published to commemorate the first 5 years of the Fabry Outome Survey, this volume brings
together contributions from leading experts in the field of lysosomal storage diseases (LSDs) …

Fabry disease is a lysosomal storage disorder with onset of adverse signs and symptoms
usually during childhood and progressive life-threatening decline in organ functions. A …