Mitochondrial dysfunction is emerging as an important contributory factor to the
pathophysiology of lysosomal storage disorders (LSDs). The cause of mitochondrial …

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 …

Fabry disease (FD) is an X-linked inherited lysosomal storage disease caused by α-
galactosidase A (GLA) deficiency. Progressive intracellular accumulation of …

The accumulation of globotriaosylceramide (Gb-3) in multiple organs, such as the heart,
kidney, and nervous system, due to mutations in the galactosidase alpha (GLA) gene …

Background Fabry disease (FD) is an X-linked lysosomal storage disorder, caused by
deficient activity of the alpha-galactosidase A enzyme leading to progressive and …

Enzyme replacement therapy (ERT) has been widely used for the treatment of Fabry
disease, a rare X-linked recessive disorder due to absent or reduced activity of lysosomal …

The Anderson–Fabry disease is a rare, X‐linked, multisystemic, progressive lysosomal
storage disease caused by α‐galactosidase A total or partial deficiency. The resulting …

Background Fabry disease (FD) is a rare, genetic disease, that if untreated, progresses to
irreversible and life-threatening renal, cardiac, and cerebrovascular events. FD symptoms …

Tuberous Sclerosis Complex (TSC) is caused by loss of function variants in either TSC1 or
TSC2 and is characterized by broad phenotypic heterogeneity. Currently, there is limited …

Pathogenic variants in one of the genes encoding a component of the sarcomere, are found
in approximately 50-60% of probands with a family history of HCM, and 20-30% of probands …