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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:BMJ Case Rep
Päätekijät: De Bernardo, Giuseppe, Giordano, Maurizio, Sordino, Desiree, Buono, Salvatore
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Publishing Group 2015
Aiheet:
Linkit: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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