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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:JIMD Rep
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Springer Berlin Heidelberg 2014
विषय:
Article
ऑनलाइन पहुंच: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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