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New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
Niemann-Pick disease type C (NP-C) is an autosomal recessive disorder characterized by progressive neurological deterioration leading to premature death. The disease is caused by mutations in one of two genes, NPC1 or NPC2, leading to impaired intracellular lipid transport and build-up of lipids in...
| Autores principales: | , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Dove Medical Press
2009
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2781062/ https://www.ncbi.nlm.nih.gov/pubmed/19956552 |