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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發表在: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
格式: Artigo
語言:Inglês
出版: Springer Berlin Heidelberg 2014
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在線閱讀: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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