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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2020
Gaiak:
Research Article
Sarrera elektronikoa: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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