Associated Papers
Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation.
Wallraven T et al.
Npj Genomic Medicine, 2026
41545379 (PubMed )
Supplement: 41525_2025_540_MOESM1_ESM.pdf
Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man: Fabry Disease With a Novel Mutation of GLA Gene.
Gaballa S et al.
Cureus, 2020
GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease.
Dong ZY et al.
Annals of Translational Medicine, 2020
Pseudo-dominant inheritance of a novel double GLA mutation associated with Fabry disease mimicking familial episodic pain.
Mao C et al.
American Journal of Medical Genetics. Part A, 2016
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