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Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights
The present review is focused on juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) due to a mutation in CLN3. Functional vision impairment occurring around 5–6 years of age is the first symptom in more than 80% of patients. Approximately 2 years later (though sometimes simultaneously),...
保存先:
| 出版年: | Degener Neurol Neuromuscul Dis |
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| 第一著者: | |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Dove Medical Press
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6053093/ https://ncbi.nlm.nih.gov/pubmed/30050370 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/DNND.S111967 |
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