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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...
Tallennettuna:
| Julkaisussa: | BMJ Case Rep |
|---|---|
| Päätekijät: | , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMJ Publishing Group
2015
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| 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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