This consensus statement by a panel of Fabry experts aimed to identify areas of consensus
on conceptual, clinical and therapeutic aspects of Fabry disease (FD) and to provide …

Background and Objectives There is accumulating evidence in the literature indicating a
strong correlation between Fabry disease (FD) phenotypes and specific sequence variations …

Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD)
characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice …

The identification of pathogenic GLA variants plays a central role in the establishment of a
definite Fabry disease (FD) diagnosis. We aimed to review and interpret the published data …

Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A
deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life …

We aimed to explore the prevalence of Fabry disease in Thai patients who were diagnosed
with end-stage renal disease (ESRD) of an unknown origin. Venous blood samples were …

Objectives Mutations in the α-galactosidase A (GLA) gene result in Fabry disease (FD), a
rare metabolic condition. FD patients present with heterogeneous clinical manifestations …

Abstract Background Familial Mediterranean fever (FMF) is an autosomal recessive disease
associated with mutations in the Mediterranean fever gene (MEFV) that manifests with …

Objective Fabry disease (FD) is a rare X‐linked lysosomal storage disorder due to the
absent or deficient activity of lysosomal hydrolase a‐galactosidase A (α‐Gal A), which leads …

Fabry disease (FD) is a rare, progressive, inherited disorder resulting from a markedly
deficient enzyme activity of α-galactosidase A (AGAL), which is caused by mutations in the X …