Christine R Kaneski et al.
Molecular genetics and metabolism, 119(1-2), 144-150 (2016-07-30)
Fabry disease is a glycosphingolipid storage disorder that is caused by a genetic deficiency of the enzyme alpha-galactosidase A (AGA, EC 22.214.171.124). It is a multisystem disease that affects the vascular, cardiac, renal, and nervous systems. One of the hallmarks