Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

BACKGROUND: Niemann-Pick type C (NP-C) is a rare autosomal recessive progressive neurodegenerative disorder caused by mutations in the NP-C 1 or 2 gene. Besides visceral symptoms, presentation in adolescent and adult onset variants is often with neurological symptoms. The most frequently reported pr...

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Enregistré dans:
Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: Koens, L. H., Kuiper, A., Coenen, M. A., Elting, J. W. J., de Vries, J. J., Engelen, M., Koelman, J. H. T. M., van Spronsen, F. J., Spikman, J. M., de Koning, T. J., Tijssen, M. A. J.
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2016
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5007743/
https://ncbi.nlm.nih.gov/pubmed/27581084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0502-3
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