Fabry disease (FD) is a recessive monogenic disease linked to chromosome X due to more
than two hundred mutations in the alfa-galactosidase A (GLA) gene. Modifications of the …

The management of inherited neuropathies relies mostly on the treatment of symptoms. In
recent years, a better understanding of the pathogenic mechanisms that underlie …

Patients with Fabry disease suffer from chronic debilitating pain and peripheral sensory
neuropathy with minimal treatment options, but the cellular drivers of this pain are unknown …

Pain in Fabry disease (FD) is generally accepted to result from neuronal damage in the
peripheral nervous system as a consequence of excess lipid storage caused by alpha …

HomeCageScan (HCS) is an automated behavioral scoring system that can be used to
classify and quantify rodent behaviors in the home cage. Although HCS has been used for a …

There has been tremendous progress in treatment of neuromuscular diseases over the last
20 years, which has transformed the natural history of these severely debilitating conditions …

Patients with Fabry disease suffer from chronic debilitating pain and peripheral sensory
neuropathy with minimal treatment options, but the cellular drivers of this pain are unknown …

Fabry disease, the most common X-linked lysosomal storage disease, is caused by a
deficiency in the enzyme alpha-galactosidase A (α-Gal A) which results in chronic …