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 …

Technical advances in generating and phenotyping cardiomyocytes from human pluripotent
stem cells (hPSC-CMs) are now driving their wider acceptance as in vitro models to …

Here, we have used patient-derived induced pluripotent stem cell (iPSC) and gene-editing
technology to study the cardiac-related molecular and functional consequences of mutations …

In the past few years, the use of specific cell types derived from induced pluripotent stem
cells (iPSCs) has developed into a powerful approach to investigate the cellular …

Fabry disease (FD) is a lysosomal storage disorder caused by deficient alpha-galactosidase
A activity in the lysosome due to mutations in the GLA gene, resulting in gradual …

Fabry disease is a multi-organ disease, caused by mutations in the GLA gene and leading to
a progressive accumulation of glycosphingolipids due to enzymatic absence or malfunction …

Fabry Disease (FD) is a systemic disorder that can result in cardiovascular, renal, and
neurovascular disease leading to reduced life expectancy. FD should be considered in the …

Objectives The aim of this study is to explore the expression of inflammatory cytokines (ICs)
in Fabry disease (FD), the correlation between ICs and FD phenotypes, and the impact of …

Background: Hybrid 18F-fluorodeoxyglucose (FDG) positron emission tomography and
magnetic resonance imaging may differentiate mature fibrosis or scar from fibrosis …

Background Fabry disease is an X-linked disease caused by mutations in α-galactosidase A
(GLA); these mutations result in the accumulation of its substrates, mainly …