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Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease
Niemann-Pick type C (NPC) disease is a neurodegenerative lysosomal storage disease caused by mutations in either the NPC1 or NPC2 gene. NPC is characterised by storage of multiple lipids in the late endosomal/lysosomal compartment, resulting in cellular and organ system dysfunction. The underlying m...
Autores principales: | Nicoli, Elena-Raluca, Al Eisa, Nada, Cluzeau, Celine V. M., Wassif, Christopher A., Gray, James, Burkert, Kathryn R., Smith, David A., Morris, Lauren, Cologna, Stephanie M., Peer, Cody J., Sissung, Tristan M., Uscatu, Constantin-Daniel, Figg, William D., Pavan, William J., Vite, Charles H., Porter, Forbes D., Platt, Frances M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4809520/ https://www.ncbi.nlm.nih.gov/pubmed/27019000 http://dx.doi.org/10.1371/journal.pone.0152007 |
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