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Article

Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019.

Journal of nephrology - 1 Jun 2020

Capuano Ivana, Garofalo Carlo, Buonanno Pasquale, Pinelli Michele, Di Risi Teodolinda, Feriozzi Sandro, Riccio Eleonora, Pisani Antonio

Abstract excerpt

BACKGROUND: Fabry disease (FD) is a rare X-linked genetic disorder of glycosphingolipid catabolism caused by mutations in the GLA gene. Its heterogeneous presentation, the paucity of specific early markers, and the absence of a genotype-phenotype correlation are associated with a delayed or missed diagnosis. The true prevalence of FD remains so far unknown. METHODS: A systematic search of FD screening studies in...

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PMID: 31650418
DOI: 10.1007/s40620-019-00663-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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