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Article

The influence of genetic variability and proinflammatory status on the development of bone disease in patients with Gaucher disease.

PloS one - 1 Jan 2015

Gervas-Arruga Javier, Cebolla Jorge Javier, de Blas Ignacio, Roca Mercedes, Pocovi Miguel, Giraldo Pilar

Abstract excerpt

Gaucher disease, the most common lysosomal storage disorder, is caused by β-glucocerebrosidase deficiency. Bone complications are the major cause of morbidity in patients with type 1 Gaucher disease (GD1). Genetic components strongly influence bone remodelling. In addition, chronic inflammation produced by Gaucher cells induces the production of several cytokines, which leads to direct changes in the bone...

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Identifiers

PMID: 25978039
DOI: 10.1371/journal.pone.0126153
PMCID: PMC4433334

Genes

MIP
VDR

Variants

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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