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Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience

4 Feb 2025

Abstract excerpt

Fabry disease (FD) is a progressive, multisystemic X-linked disorder caused by mutations in the GLA gene, often leading to renal failure. Although several screening programs have been conducted, the prevalence of FD in patients with chronic kidney patients who are not dependent on dialysis (NDD-CKD) is likely underestimated due to restrictive inclusion criteria and methodological shortcomings. This study aims to...

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PMID: 39904758
DOI: 10.1080/0886022x.2025.2454295

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