Lysosomal storage diseases are usually considered to be pathologies in which the passive
deposition of unwanted materials leads to functional changes in lysosomes. Lysosomal …

The hypertrophic cardiomyopathy phenotype encompasses a heterogeneous spectrum of
genetic and acquired diseases characterized by the presence of left ventricular hypertrophy …

Fabry disease is an X-linked lysosomal storage disease caused by a mutation in the
galactosidase alpha (GLA) gene. Despite advances in therapeutic technologies, the lack of …

Ferroptosis is one of the recently described types of cell death which is dependent on many
factors, including the accumulation of iron and lipid peroxidation. Its induction requires …

This is the first study to show both dynamic thiol-disulfide balance and oxidative stress levels
in patients with Fabry disease (FD). This prospective study consists of 30 FD patients and 30 …

Abstract Purpose of Review This review explores the interplay among metabolic dysfunction,
oxidative stress, inflammation, and fibrosis in Fabry disease, focusing on their potential …

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 rare X-linked disease characterized by deficient expression and activity of
alpha-galactosidase A (α-GalA) with consequent lysosomal accumulation 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 characterized by deficient expression/activity of α-GalA with
consequent lysosomal accumulation in various organs of its substrate Gb3. Despite enzyme …