Načítá se...

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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:BMJ Case Rep
Hlavní autoři: De Bernardo, Giuseppe, Giordano, Maurizio, Sordino, Desiree, Buono, Salvatore
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2015
Témata:
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!