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Article

Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease.

International journal of molecular sciences - 12 Apr 2024

Blanco Rocío, Rico-Ramírez Yolanda, Hermida-Ameijeiras Álvaro, Abdullah Israa Mahmoud Sanad, Lau Kolja, Alvarez-Rubio Jorge, Fortuny Elena, Martínez-Monzonís Amparo, Nowak Albina, Nordbeck Peter, Veras-Burgos Carlos, Pons-Llinares Jaume, Rossi Emiliano, Caimi-Martínez Fiama, Bosch-Rovira Teresa, Alamar-Cervera Marta, Ruiz-Pizarro Virginia, Torres-Juan Laura, Heine-Suñer Damian, Ripoll-Vera Tomás

Abstract excerpt

The p.Arg301Gln variant in the α -galactosidase A gene (GLA) has been poorly described in the literature. The few reports show controversial information, with both classical and nonclassical Anderson-Fabry Disease (AFD) presentation patterns. The aim of this study was to analyze the penetrance, clinical phenotype, and biochemical profile of an international cohort of patients carrying the p.Arg301Gln genetic...

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PMID: 38673884
DOI: 10.3390/ijms25084299
PMCID: PMC11050256

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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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