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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMJ Case Rep
Prif Awduron: De Bernardo, Giuseppe, Giordano, Maurizio, Sordino, Desiree, Buono, Salvatore
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 2015
Pynciau:
Mynediad Ar-lein: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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