Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

OBJECTIVE: To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery. METHODS: Through establishment of an international consortium we pooled 47 unsolved cases regarded by referring center...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Berkovic, Samuel F., Staropoli, John F., Carpenter, Stirling, Oliver, Karen L., Kmoch, Stanislav, Anderson, Glenn W., Damiano, John A., Hildebrand, Michael S., Sims, Katherine B., Cotman, Susan L., Bahlo, Melanie, Smith, Katherine R., Cadieux-Dion, Maxime, Cossette, Patrick, Jedličková, Ivana, Přistoupilová, Anna, Mole, Sara E.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4977374/
https://ncbi.nlm.nih.gov/pubmed/27412140
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002943
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