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The Genetic Spectrum of Human Neuronal Ceroid‐lipofuscinoses
The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of inherited severe neurodegenerative disorders primarily affecting children. They are characterised by the accumulation of autofluorescent storage material in many cells. Children suffer from visual failure, seizure...
保存先:
| 出版年: | Brain Pathol |
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| 第一著者: | |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Blackwell Publishing Ltd
2006
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8095883/ https://ncbi.nlm.nih.gov/pubmed/14997939 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.2004.tb00500.x |
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