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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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| 出版年: | Orphanet J Rare Dis |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2016
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| 主題: | |
| 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 |
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