Oral Cysteamine bitartrate and N-acetylcysteine combination for patients with infantile neuronal ceroid lipofuscinosis:a pilot study

BACKGROUND: Infantile neuronal ceroid lipofuscinosis (INCL) is a devastating neurodegenerative lysosomal storage disease caused by mutations in the CLN1 gene encoding palmitoyl-protein thioesterase-1 (PPT1). PPT1-deficiency causes lysosomal ceroid accumulation leading to INCL pathogenesis. Previousl...

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書誌詳細
主要な著者: Levin, Sondra W., Baker, Eva H., Zein, Wadih M., Zhang, Zhongjian, Quezado, Zenaide M.N., Miao, Ning, Gropman, Andrea, Griffin, Kurt J., Bianconi, Simona, Chandra, Goutam, Khan, Omar I., Caruso, Rafael C., Liu, Aiyi, Mukherjee, Anil B.
フォーマット: Artigo
言語:Inglês
出版事項: 2014
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4139936/
https://ncbi.nlm.nih.gov/pubmed/24997880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/S1474-4422(14)70142-5
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