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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...

詳細記述

保存先:
書誌詳細
出版年:BMJ Case Rep
主要な著者: De Bernardo, Giuseppe, Giordano, Maurizio, Sordino, Desiree, Buono, Salvatore
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 2015
主題:
オンライン・アクセス: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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