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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Библиографические подробности
Опубликовано в: :PLoS One
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Public Library of Science 2020
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Research Article
Online-ссылка: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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