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Article

Recent advances in elucidating Niemann-Pick C disease.

Brain pathology (Zurich, Switzerland) - 1 Jan 1998

Vanier M T, Suzuki K

Abstract excerpt

Lysosomal sequestration of endocytosed LDL-derived cholesterol, premature and abnormal enrichment of cholesterol in trans Golgi cisternae and accompanying anomalies in intracellular sterol trafficking are the hallmark phenotypic features of the Niemann-Pick C (NPC) lesion. A variable severity of...

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Source

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Identifiers

PMID: 9458174
DOI: 10.1111/j.1750-3639.1998.tb00143.x
PMCID: PMC8098395

Genes

NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9458174-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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