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Early diagnosis of Canavan syndrome: how can we get there?

Canavan syndrome is a rare genetic disorder characterised by progressive severe leukodystrophy involving the degeneration of white matter. Currently, there is no effective therapy, but after recent studies using early gene therapy, the outcome has appeared to improve. It is of fundamental importance...

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Bibliografski detalji
Izdano u:BMJ Case Rep
Glavni autori: De Bernardo, Giuseppe, Giordano, Maurizio, Sordino, Desiree, Buono, Salvatore
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 2015
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4533678/
https://ncbi.nlm.nih.gov/pubmed/26245283
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2014-208755
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