Article

Concurrent Genetic Disorders in Gaucher Disease: Insights into Complex Phenotypes, Genetic Modifiers, and Targeted Therapies

2024-12-23

Abstract excerpt

<h4>Background: </h4> /Objectives: Gaucher disease (GD) is characterized by significant phenotypic heterogeneity, even among patients with identical GBA1 genotypes, suggesting the role of genetic and/or epigenetic modifiers. The enzymatic defect and pathological accumulation of glucosylceramide (GlcCer) lead to chronic metabolic inflammation, potentially interacting with other biological pathways to influence dise...

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Literature Corpus work: 424740d9-345c-54f0-85a1-0a2183612d48
DOI: 10.20944/preprints202412.1836.v1

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