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

11 Aug 2009

Abstract excerpt

Fabry disease is an X-linked inherited lysosomal disorder with dysfunction of the lysosomal enzyme alpha-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...

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PMID: 19665302
DOI: 10.1016/j.pain.2009.06.032

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