Case Definition and Classification of Leukodystrophies and Leukoencephalopathies

OBJECTIVE: An approved definition of the term leukodystrophy does not currently exist. The lack of a precise case definition hampers efforts to study the epidemiology and the relevance of genetic white matter disorders to public health. METHOD: Thirteen experts at multiple institutions participated...

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Publicado no:Mol Genet Metab
Main Authors: Vanderver, Adeline, Prust, Morgan, Tonduti, Davide, Mochel, Fanny, Hussey, Heather M., Helman, Guy, Garbern, James, Eichler, Florian, Labauge, Pierre, Aubourg, Patrick, Rodriguez, Diana, Patterson, Marc C., Van Hove, Johan L.K., Schmidt, Johanna, Wolf, Nicole I., Boespflug-Tanguy, Odile, Schiffmann, Raphael, van der Knaap, Marjo S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4390457/
https://ncbi.nlm.nih.gov/pubmed/25649058
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2015.01.006
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