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Article

Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.

Clinica chimica acta; international journal of clinical chemistry - 20 Jul 2015

Ferreira Susana, Auray-Blais Christiane, Boutin Michel, Lavoie Pamela, Nunes José Pedro, Martins Elisabete, Garman Scott, Oliveira João Paulo

Abstract excerpt

Recent data have shown that lyso-Gb3, the deacylated derivative of globotriaosylceramide (Gb3), is possibly involved in the pathogenesis of Fabry disease (FD) and might be a clinically useful biomarker of its metabolic load. To test this hypothesis, we assayed Gb3 and lyso-Gb3 and related analogs in plasma and/or urine samples of 12 clinically well-characterized subjects carrying several different GLA variant...

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Identifiers

PMID: 26070511
DOI: 10.1016/j.cca.2015.06.003
PMCID: PMC4793778

Genes

GLA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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