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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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Izdano u: | JIMD Rep |
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Glavni autori: | , , , , , , , , , , , , , , |
Format: | Artigo |
Jezik: | Inglês |
Izdano: |
Springer Berlin Heidelberg
2014
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Teme: | |
Online pristup: | 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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