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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Rota, Eugenia, Grandis, Marina, Di Sapio, Alessia, Ghiglione, Elisabetta, Fiorentino, Pietro, Repetto, Alessandra, Giliberto, Claudia, Gemelli, Chiara, Morelli, Nicola, Schenone, Angelo, Cocito, Dario
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Letter to the Editor
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7439676/
https://ncbi.nlm.nih.gov/pubmed/32819406
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01501-w
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