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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Detalles Bibliográficos
Autores principales: Stampfer, Miriam, Theiss, Susanne, Amraoui, Yasmina, Jiang, Xuntian, Keller, Sigrid, Ory, Daniel S, Mengel, Eugen, Fischer, Christine, Runz, Heiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3649939/
https://www.ncbi.nlm.nih.gov/pubmed/23433426
http://dx.doi.org/10.1186/1750-1172-8-35

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3649939/
https://www.ncbi.nlm.nih.gov/pubmed/23433426
http://dx.doi.org/10.1186/1750-1172-8-35

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