Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA
gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life …

Background Fabry disease, an inherited lysosomal storage disorder, causes multi-organ
pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry …

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 …

Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease
and cardiovascular disease. The availability of specific but costly therapy has elevated the …

Fabry disease (FD), a rare X‐linked disease, can be treated with bi‐monthly infusion of
enzyme replacement therapy (ERT) to replace deficient α‐galactosidase A (AGAL‐A). ERT …

Fabry disease (FD) is a rare X-linked lysosomal storage disease based on a deficiency of α-
galactosidase A (AGAL) caused by mutations in the α-galactosidase A gene (GLA). The …

Corneal confocal microscopy is a non‐invasive ophthalmic imaging modality, which was
initially used for the diagnosis and management of corneal diseases. However, over the last …

Background Family genetic testing of patients newly diagnosed with a rare genetic disease
can improve early diagnosis of family members, allowing patients to receive disease …

Skeletal muscle (SM) pain and fatigue are common in Fabry disease (FD). Here, we
undertook the investigation of the energetic mechanisms related to FD-SM phenotype. A …

Severe neuropathic pain is a hallmark of Fabry disease, a genetic disorder caused by a
deficiency in lysosomal α-galactosidase A. Pain experienced by these patients significantly …