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 …

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

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 …

With the declining cost of sequencing and the ongoing discovery of disease genes, it is now
possible to examine hundreds of genes in a single disease-targeted test. Although exome …

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the
GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and …

Background Screening in subjects with left ventricular hypertrophy (LVH) reveals a high
prevalence of Fabry disease (FD). Often, a diagnosis is uncertain because characteristic …

Fabry disease (FD) is a lysosomal storage disorder caused by mutations of the GLA gene
that lead to a deficiency of the enzymatic activity of α-galactosidase A. Available therapies …

Fabry's disease (FD) is a rare, sex‐linked disorder resulting from α‐galactosidase
deficiency. Cerebrovascular complications have been reported in the literature but have not …

Anderson-Fabry disease (AFD) is a rare X-linked inherited metabolic disorder which results
in a deficiency or absence of the enzyme α-galactosidase A, leading to the accumulation of …

Abstract Background Heterozygous females with Fabry disease have a wide range of
clinical phenotypes depending on the nature of their mutation and their X-chromosome …