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

@article{Levin2014OralCB,
  title={Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.},
  author={S W Levin and Eva Baker and Wadih M Zein and Zhongjian Zhang and Zenaide Quezado and Ning Miao and Andrea Gropman and Kurt J Griffin and Simona Bianconi and Goutam Chandra and Omar Iqbal Khan and Rafael C. Caruso and Aiyi Liu and A B Mukherjee},
  journal={The Lancet. Neurology},
  year={2014},
  volume={13 8},
  pages={777-87}
}
BACKGROUND Infantile neuronal ceroid lipofuscinosis is a devastating neurodegenerative lysosomal storage disease caused by mutations in the gene (CLN1 or PPT1) encoding palmitoyl-protein thioesterase-1 (PPT1). We have previously reported that phosphocysteamine and N-acetylcysteine mediate ceroid depletion in cultured cells from patients with this disease. We aimed to assess whether combination of oral cysteamine bitartrate and N-acetylcysteine is beneficial for patients with neuronal ceroid… CONTINUE READING
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