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Article

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.

Journal of lipid research - 1 Feb 2010

Garver William S, Jelinek David, Meaney F John, Flynn James, Pettit Kathleen M, Shepherd Glen, Heidenreich Randall A, Vockley Cate M Walsh, Castro Graciela, Francis Gordon A

Abstract excerpt

Niemann-Pick type C1 disease (NPC1) is an autosomal recessive lysosomal storage disorder characterized by neonatal jaundice, hepatosplenomegaly, and progressive neurodegeneration. The present study provides the lipid profiles, mutations, and corresponding associations with the biochemical phenotype obtained from NPC1 patients who participated in the National NPC1 Disease Database. Lipid profiles were obtained...

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Identifiers

PMID: 19744920
DOI: 10.1194/jlr.P000331
PMCID: PMC2803243

Genes

NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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