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Article

Circular RNA-based biomarkers in blood of patients with Fabry disease and related phenotypes.

Journal of medical genetics - 1 Mar 2022

Nowak Albina, Haddad George, Kistler Andreas D, Nlandu-Khodo Stellor, Beuschlein Felix, Wüthrich Rudolf P, Lorenzen Johan M, Kölling Malte

Abstract excerpt

BACKGROUND: Fabry disease is a rare X-linked lysosomal storage disease caused by mutations in the galactosidase α gene. Deficient activity of α-galactosidase A leads to glycosphingolipid accumulations in multiple organs. Circular RNAs represent strong regulators of gene expression. Their circular structure ensures high stability in blood. We hypothesised that blood-based circular RNA profiles improve phenotypic...

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Identifiers

PMID: 33547137
DOI: 10.1136/jmedgenet-2020-107086

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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