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Article

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.

Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2015

Auray-Blais Christiane, Blais Catherine-Marie, Ramaswami Uma, Boutin Michel, Germain Dominique P, Dyack Sarah, Bodamer Olaf, Pintos-Morell Guillem, Clarke Joe T R, Bichet Daniel G, Warnock David G, Echevarria Lucia, West Michael L, Lavoie Pamela

Abstract excerpt

BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder affecting both males and females with tremendous genotypic/phenotypic variability. Concentrations of globotriaosylceramide (Gb3), globotriaosylsphingosine (lyso-Gb3)/related analogues were investigated in pediatric and adult Fabry cohorts. The aims of this study were to transfer and validate an HPLC-MS/MS methodology on a UPLC-MS/MS new...

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Identifiers

PMID: 25149322
DOI: 10.1016/j.cca.2014.08.002

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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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