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The natural history of Canavan disease: 23 new cases and comparison with patients from literature

BACKGROUND: Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was studied retrospectively and prospectively in 23 CD patients. Results were compar...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Bley, Annette, Denecke, Jonas, Kohlschütter, Alfried, Schön, Gerhard, Hischke, Sandra, Guder, Philipp, Bierhals, Tatjana, Lau, Heather, Hempel, Maja, Eichler, Florian S.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8132415/
https://ncbi.nlm.nih.gov/pubmed/34011350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01659-3
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