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Article

LC-MS/MS analysis of plasma glucosylsphingosine as a biomarker for diagnosis and follow-up monitoring in Gaucher disease in the Spanish population.

Clinical chemistry and laboratory medicine - 28 Apr 2020

Irún Pilar, Cebolla Jorge J, López de Frutos Laura, De Castro-Orós Isabel, Roca-Espiau Mercedes, Giraldo Pilar

Abstract excerpt

Background Gaucher disease (GD), caused by a deficiency in acid β-glucosidase, leads to the accumulation of glucosylsphingosine (GluSph), which has been used as a powerful biomarker for the diagnosis and follow-up of GD. Our aim was to perform the first retrospective study of GluSph in Spanish patients, analyzing its relationship with classical biomarkers and other parameters of disease and its utility regarding...

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PMID: 32126008
DOI: 10.1515/cclm-2019-0949

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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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