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High-Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb3 ) in Urine Collected on Filter Paper.

Current protocols in human genetics - 6 Apr 2017

Auray-Blais Christiane, Lavoie Pamela, Boutin Michel, Abaoui Mona

Abstract excerpt

Fabry disease is a complex, panethnic lysosomal storage disorder. It is characterized by the accumulation of glycosphingolipids in tissues, organs, the vascular endothelium, and biological fluids. The reported incidence in different populations is quite variable, ranging from 1:1400 to 1:117,000. Its complexity lies in the marked genotypic and phenotypic heterogeneity. Despite the fact that it is an X-linked...

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PMID: 28384397
DOI: 10.1002/cphg.34

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