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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Tängemo, Carolina, Weber, Dominik, Theiss, Susanne, Mengel, Eugen, Runz, Heiko
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The American Society for Biochemistry and Molecular Biology 2011
Gaiak:
Sarrera elektronikoa: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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