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Article

Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease.

Journal of inherited metabolic disease - 1 Feb 2007

Auray-Blais C, Cyr D, Mills K, Giguère R, Drouin R

Abstract excerpt

Fabry disease is an X-linked lysosomal storage disorder of glycosphingolipid catabolism resulting from a deficiency of the enzyme alpha-galactosidase A, and leading to the progressive accumulation of one biomarker, globotriaosylceramide (Gb(3)), predominantly elevated in the urine of these patients. We have developed a technique for the analysis of total Gb(3) in urine samples collected on filter paper, using...

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Source

Identifiers

PMID: 17171433
DOI: 10.1007/s10545-006-0444-3

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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