Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

BACKGROUND: The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NP-C) is characterized by a broad clinical variability involving neurological, psychiatric and systemic signs. Diverse patterns of disease manifestation and progression considerably delay its diagnosis. Here we...

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Bibliografiset tiedot
Päätekijät: Stampfer, Miriam, Theiss, Susanne, Amraoui, Yasmina, Jiang, Xuntian, Keller, Sigrid, Ory, Daniel S, Mengel, Eugen, Fischer, Christine, Runz, Heiko
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2013
Aiheet:
Research
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3649939/
https://ncbi.nlm.nih.gov/pubmed/23433426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-35
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