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Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question!
Fabry disease (FD) is a systemic X-linked lysosomal disorder. A ‘peripheral nerve variant’ of FD has been hypothesized in subjects with neuropathy, without the early manifestations of the classic phenotype. A cohort of undiagnosed neuropathy patients with chronic polyneuropathy of undetermined aetio...
Autores principales: | Rota, Eugenia, Grandis, Marina, Di Sapio, Alessia, Ghiglione, Elisabetta, Fiorentino, Pietro, Repetto, Alessandra, Giliberto, Claudia, Gemelli, Chiara, Morelli, Nicola, Schenone, Angelo, Cocito, Dario |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439676/ https://www.ncbi.nlm.nih.gov/pubmed/32819406 http://dx.doi.org/10.1186/s13023-020-01501-w |
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