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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease fabry disease
Symptom C0030193|pain
Sentences 3
PubMedID- 22878429 The provisional version was tested in a prospective multicenter trial of 138 patients with chronic extremity pain due to fabry disease (n = 55), painful polyneuropathy (n = 40), and rheumatoid arthritis (n = 43).
PubMedID- 21124789 The neuropathic pain characteristic of fabry disease may have its origin in the accumulation of gl-3 in drg neurons and their subsequent destruction .
PubMedID- 25224312 Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.

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