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Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage
A central feature of Niemann-Pick Type C (NPC) disease is sequestration of cholesterol and glycosphingolipids in lysosomes. A large phenotypic variability, on both a clinical as well as a molecular level, challenges NPC diagnosis. For example, substantial difficulties in identifying or excluding NPC...
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| Главные авторы: | , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
The American Society for Biochemistry and Molecular Biology
2011
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3284170/ https://ncbi.nlm.nih.gov/pubmed/21245028 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.P013524 |
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