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Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals
Niemann-Pick disease type C (NPC) is a neurovisceral disorder associated with the accumulation of lipids such as cholesterol and sphingolipids. NPC is caused by either NPC1 or NPC2, which encode lysosomal proteins located at membraneous and soluble fractions, respectively. For the past decade, the o...
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| Pubblicato in: | Mol Genet Metab Rep |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6047109/ https://ncbi.nlm.nih.gov/pubmed/30023294 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.03.005 |
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