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Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease.
Patel V, O'Mahony C, Hughes D, Rahman MS, Coats C, Murphy E, Lachmann R, Mehta A, Elliott PM. Patel V, et al. Heart. 2015 Jun;101(12):961-6. doi: 10.1136/heartjnl-2014-306782. Epub 2015 Feb 5. Heart. 2015. PMID: 25655062
BACKGROUND: Anderson-Fabry Disease (AFD) is an X linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A gene. Some mutations are associated with prominent and, in many cases, exclusive cardiac involvement. The primary aims o …
BACKGROUND: Anderson-Fabry Disease (AFD) is an X linked lysosomal storage disorder caused by mutations in the alpha-gal …
The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease.
Sigurdardottir S, Bjerkely B, Jenssen TG, Mathisen P, von der Lippe C, Ørstavik K, Heimdal K, Dahle DO, Weedon-Fekjær MS, Solberg O, Pihlstrøm HK. Sigurdardottir S, et al. Orphanet J Rare Dis. 2021 Oct 12;16(1):427. doi: 10.1186/s13023-021-02066-y. Orphanet J Rare Dis. 2021. PMID: 34641933 Free PMC article.
BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by multiorgan dysfunction. ...Medical complications in combination with older age and male sex are important predictors of lower HRQOL in FD. Awareness of this relationship …
BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by multiorgan dysfunction. ...Medical c …
Cardiac Phenotypes in Fabry Disease: Genetic Variability and Clinical Severity Staging Correlation in a Reference Center Cohort.
Faro DC, Di Salvo S, Rodolico MS, Losi V, Capodanno D, Monte IP. Faro DC, et al. Genes (Basel). 2025 Sep 15;16(9):1086. doi: 10.3390/genes16091086. Genes (Basel). 2025. PMID: 41010031 Free PMC article.
BACKGROUND/OBJECTIVES: Anderson-Fabry disease (AFD) presents with a wide spectrum of clinical manifestations, influenced by the underlying GLA genotype. ...Cardiovascular involvement was assessed using three standardized staging tools-Del Franco …
BACKGROUND/OBJECTIVES: Anderson-Fabry disease (AFD) presents with a wide spectrum of clinical manifestations, in …