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Article

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.

Molecular genetics and metabolism - 1 Jul 2020

Stiles Ashlee R, Zhang Haoyue, Dai Jian, McCaw Patricia, Beasley James, Rehder Catherine, Koeberl Dwight D, McDonald Marie, Bali Deeksha S, Young Sarah P

Abstract excerpt

PURPOSE: Successful diagnosis of Fabry disease is often delayed or missed in patients, especially females, due to clinical heterogeneity and a lack of disease awareness. We present our experience testing for Fabry disease in high risk populations and discuss the relative sensitivities of α-galactosidase A (α-Gal A) enzyme activity in blood, plasma lyso-globotriaosylceramide (lyso-Gb3) biomarker, and GLA gene...

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Identifiers

PMID: 32418857
DOI: 10.1016/j.ymgme.2020.04.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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