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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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha: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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