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Diagnostic workup and management of patients with suspected Niemann-Pick type C disease
Niemann-Pick type C (NP-C) disease is a neurovisceral disorder caused by mutations in the NPC1 and NPC2 genes. It is characterized by lysosomal storage of a broad range of lipids as a result of abnormal intracellular lipid trafficking. Typically patients develop neurodegeneration; however, the speed...
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| Vydáno v: | Ther Adv Neurol Disord |
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| Hlavní autoři: | , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
SAGE Publications
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4811014/ https://ncbi.nlm.nih.gov/pubmed/27134677 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1756285616635964 |
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