Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.

doi:10.1016/j.trsl.2024.02.006

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Article

Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.

Translational research : the journal of laboratory and clinical medicine - 1 Jul 2024

López-Valverde Laura, Vázquez-Mosquera María E, Colón-Mejeras Cristóbal, Bravo Susana B, Barbosa-Gouveia Sofía, Álvarez J Víctor, Sánchez-Martínez Rosario, López-Mendoza Manuel, López-Rodríguez Mónica, Villacorta-Argüelles Eduardo, Goicoechea-Diezhandino María A, Guerrero-Márquez Francisco J, Ortolano Saida, Leao-Teles Elisa, Hermida-Ameijeiras Álvaro, Couce María L

Abstract excerpt

Fabry disease (FD) is a X-linked rare lysosomal storage disorder caused by deficient α-galactosidase A (α-GalA) activity. Early diagnosis and the prediction of disease course are complicated by the clinical heterogeneity of FD, as well as by the frequently inconclusive biochemical and genetic test results that do not correlate with clinical course. We sought to identify potential biomarkers of FD to better...

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PMID: 38395389
DOI: 10.1016/j.trsl.2024.02.006

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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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