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...

詳細記述

保存先:
書誌詳細
出版年:Orphanet J Rare Dis
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2016
主題:
Research
オンライン･アクセス: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
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!

類似資料