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Article

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.

Orphanet journal of rare diseases - 10 Jun 2014

Zhang Huiwen, Wang Yu, Lin Na, Yang Rui, Qiu Wenjuan, Han Lianshu, Ye Jun, Gu Xuefan

Abstract excerpt

BACKGROUND: It has been reported that oxidation product of cholesterol, 7-ketocholesterol, increases in plasma of patients with NP-C. Previously, we established a rapid test to determine the plasma 7-ketocholesterol level and found it elevated significantly in patients with acid sphingomyelinase deficient NPD and NP-C disease. METHODS: Individuals randomly referred to our outpatient clinics in the past two years...

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Source

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Identifiers

PMID: 24915861
DOI: 10.1186/1750-1172-9-82
PMCID: PMC4059728

Genes

NPC1
NPC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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