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Article

Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease.

Journal of lipid research - 1 Feb 2022

Groenen Anouk G, La Rose Anouk M, Li Mengying, Bazioti Venetia, Svendsen Arthur F, Kloosterhuis Niels J, Ausema Albertina, Pranger Alle, Heiner-Fokkema M Rebecca, Niezen-Koning Klary E, Houben Tom, Shiri-Sverdlov Ronit, Westerterp Marit

Abstract excerpt

Niemann-Pick type C1 (NPC1) disease is a progressive lysosomal storage disorder caused by mutations of the NPC1 gene. While neurodegeneration is the most severe symptom, a large proportion of NPC1 patients also present with splenomegaly, which has been attributed to cholesterol and glycosphingolipid accumulation in late endosomes and lysosomes. However, recent data also reveal an increase in the inflammatory...

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Identifiers

PMID: 35007562
DOI: 10.1016/j.jlr.2021.100167
PMCID: PMC8953690

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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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