Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

Introduction: Individuals with neuropathic pain, angiokeratoma (AK) and/or cornea verticillata (CV) may be tested for Fabry disease (FD). Classical FD is characterised by a specific pattern of these features. When a patient presents with a non-specific pattern, the pathogenicity of a variant in the...

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Udgivet i:JIMD Rep
Main Authors: van der Tol, L., Cassiman, David, Houge, Gunnar, Janssen, Mirian C., Lachmann, Robin H, Linthorst, Gabor E, Ramaswami, Uma, Sommer, Claudia, Tøndel, Camilla, West, Michael L, Weidemann, Frank, Wijburg, Frits A, Svarstad, Einar, Hollak, Carla EM, Biegstraaten, Marieke
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2014
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4241201/
https://ncbi.nlm.nih.gov/pubmed/25224312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_342
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