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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Letter to the Editor
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

Internet

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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