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 …

Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the
GLA gene, which leads to a deficiency in α-galactosidase A. The consequent abnormal …

Making a firm diagnosis of chronic heart failure with preserved ejection fraction (HFpEF)
remains a challenge. We recommend a new stepwise diagnostic process, the 'HFA–PEFF …

Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by pathogenic
variants in the α‐galactosidase A (GLA) gene that leads to reduced or undetectable α …

Background—Enzyme replacement therapy with recombinant α-galactosidase A reduces left
ventricular hypertrophy and improves regional myocardial function in patients with Fabry …

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 …

Traditional echocardiographic assessment of LV diastolic function relied on Doppler
patterns of mitral inflow. Reflecting the pressure gradient between the left atrium and LV …

Tissue Doppler imaging (TDI) is a useful echocardiographic technique to evaluate global
and regional myocardial systolic as well as diastolic function. It can also be used to quantify …

Background—Enzyme replacement therapy (ERT) has been shown to enhance
microvascular endothelial globotriaosylceramide clearance in the hearts of patients with …

bar is shortened or lengthened relative to its original length (ie, reduction to half its original
length is 50% strain, and an increase to one third longer is 33% strain). Strain rate is the …