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Article

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.

Molecular genetics and metabolism - 1 Mar 2008

Auray-Blais Christiane, Cyr Denis, Ntwari Aimé, West Michael L, Cox-Brinkman Josanne, Bichet Daniel G, Germain Dominique P, Laframboise Rachel, Melançon Serge B, Stockley Tracy, Clarke Joe T R, Drouin Régen

Abstract excerpt

Fabry disease is a complex, multisystemic and clinically heterogeneous disease, in which the urinary excretion of globotriaosylceramide (Gb3), the principal substrate of the deficient enzyme, alpha-galactosidase A, is more prominent than the increased concentrations of the lipid in the plasma of affected hemizygotes and heterozygotes. We have developed and validated a simultaneous analysis of Gb3 and creatinine...

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Source

Identifiers

PMID: 18023222
DOI: 10.1016/j.ymgme.2007.10.001

Genes

GLA

Provenance

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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Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.PMID 18023222Read ↗

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