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Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases
In this case series, we demonstrate that Ursodeoxycholic acid (UDCA) improves liver dysfunction in Niemann-Pick type C (NPC) and may restore a suppressed cytochrome p450 system. NPC disease is a progressive neurodegenerative lysosomal storage disease caused by mutations in either the NPC1 or NPC2 ge...
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| 出版年: | Wellcome Open Res |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
F1000Research
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5649119/ https://ncbi.nlm.nih.gov/pubmed/29119141 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/wellcomeopenres.11854.1 |
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