Associated Papers
Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing.
Pan Y et al.
Molecular Genetics and Metabolism, 2025
Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study.
Laney DA et al.
Genetics in Medicine Open, 2024
All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada E et al.
Clinical and Experimental Nephrology, 2023
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.
Auray-Blais C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
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