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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:PLoS One
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2020
Aiheet:
Research Article
Linkit: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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