Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid
metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic …

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 …

The “Guidelines for the clinical indications of echocardiography” of the Japanese Circulation
Society (JCS) were first developed between 1993 and 1994, and the first revision1 was …

Objectives The prevalence of Anderson–Fabry disease (AFD) in patients presenting with
unexplained left ventricular hypertrophy (LVH) is controversial. The aim of this study was to …

Fabry disease (FD) is a rare, X-linked inherited disorder of glycosphingolipid metabolism. It
leads to the progressive accumulation of globotriaosylceramide within lysosomes due to a …

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 Cardiovascular Magnetic Resonance (CMR) is recognised as a valuable clinical
tool which in a single scan setting can assess ventricular volumes and function, myocardial …

Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by mutations of
the a-galactosidase A gene. The lysosomal enzyme a-galactosidase A (GLA) mediates the …

Background Anderson-Fabry disease (AFD) is an X-linked recessive inborn error of
glycosphingolipid metabolism caused by a deficiency of alpha-galactosidase A. Renal …