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Article

Diagnostic strategy for females suspected of Fabry disease.

Clinical genetics - 1 Apr 2020

Balendran Sukirthini, Oliva Petra, Sansen Stefaan, Mechtler Thomas P, Streubel Berthold, Cobos Paulina N, Lukacs Zoltan, Kasper David C

Abstract excerpt

A total of 11 948 females suspicious of Fabry disease were tested by a combined biochemical and genetic approach. The enzyme activity, together with the concentration of lyso-GL-3 (lyso-Gb3) biomarker in dried blood spots (DBS), substantially improved the diagnostic detection of Fabry disease in females compared to the enzyme activity alone. Abnormal values for both were highly suspicious of Fabry disease (97%...

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PMID: 31860127
DOI: 10.1111/cge.13694

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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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