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Article

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.

Journal of lipid research - 1 Apr 2011

Tängemo Carolina, Weber Dominik, Theiss Susanne, Mengel Eugen, Runz Heiko

Abstract excerpt

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 in a patient exist in cases with a "variant" biochemical phenotype, where cholesterol levels in cultured...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21245028
DOI: 10.1194/jlr.P013524
PMCID: PMC3284170

Genes

ABCA1
NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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