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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
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Article
Acesso em linha: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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