Functional and structural nerve fiber findings in heterozygote patients with Fabry disease

AT Møller, FW Bach, U Feldt-Rasmussen… - PAIN®, 2009 - Elsevier
Fabry disease is an X-linked inherited lysosomal disorder with dysfunction of the lysosomal
enzyme α-galactosidase A causing accumulation of glycolipids in multiple organs including
the nervous system. Pain and somatosensory disturbances are prominent manifestations of
this disease. Until recently disease manifestations in female carriers of Fabry disease have
been questioned. To explore the frequency of symptoms and the functional and structural
involvement of the nervous system in female patients we examined the presence of pain …