BACKGROUND: The diagnosis of Fabry disease (FD) has relevant implications related to
the management. Thus, a clear assignment of GLA variant pathogenicity is crucial. This …

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

Abstract Background Prevalence of Fabry disease amongst Chronic Kidney Disease (CKD)
patients on haemodialysis has been shown to be approximately 0.2%. Methods We …

Anderson–Fabry Disease (AFD) is a rare, systemic lysosomal storage disease triggered by
mutations in the GLA gene, leading to α-galactosidase A (α-Gal A) deficiency. The disease's …

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 …

Background Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by
enzyme Alpha‐Galactosidase A (α‐Gal‐A) deficiency, due mutations in GLA gene …

Fabry disease (FD) is an X-linked inherited disorder caused by mutations in the GLA gene,
which encodes the lysosomal enzyme α-galactosidase A (α-Gal A). FD detection in patients …

Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide
phenotypic spectrum. There is a scarcity of published data on the burden of FD in India. This …

Background Fabry disease is an X-linked lysosomal storage disorder with a highly
heterogeneous clinical presentation. This complex disease is caused by a deficient activity …

Background Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the
deficient activity of α-galactosidase (α-Gal A), affecting multiple organs including kidney. In …