Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

BACKGROUND: The advent of new therapies has increased the need to achieve early diagnosis in Spinal Muscular Atrophy (SMA). The aim of the present study was to define the age of diagnosis in the three main types of SMA with pediatric-onset and the timing between the recognition of clinical signs and...

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Dettagli Bibliografici
Pubblicato in:PLoS One
Autori principali: Pera, Maria Carmela, Coratti, Giorgia, Berti, Beatrice, D’Amico, Adele, Sframeli, Maria, Albamonte, Emilio, de Sanctis, Roberto, Messina, Sonia, Catteruccia, Michela, Brigati, Giorgia, Antonaci, Laura, Lucibello, Simona, Bruno, Claudio, Sansone, Valeria A., Bertini, Enrico, Tiziano, Danilo, Pane, Marika, Mercuri, Eugenio
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2020
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7089564/
https://ncbi.nlm.nih.gov/pubmed/32203538
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0230677
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