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Elzira Muratbekova

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Open access Oct 2026

One GLA Variant, Multiple Phenotypes: Intrafamilial Heterogeneity in Fabry Disease

Background: Fabry disease is an X-linked lysosomal storage disorder caused by variants in the GLA gene, leading to progressive multisystem involvement of the kidneys, heart, and central nervous system. Marked phenotypic variability among female carriers is attributed to random X-chromosome inactivation, but pronounced...

Sholpan Kanafina, Sandugash Aimagambetova, Elzira Muratbekova · 0 citations

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