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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Neurology
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Lippincott Williams & Wilkins 2016
Gaiak:
Article
Sarrera elektronikoa: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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