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Rare presentation and wide intrafamilial variability of Fabry disease: case report and review of the literature [Anatol J Cardiol]
Anatol J Cardiol. Ahead of Print: AJC-47969 | DOI: 10.14744/AnatolJCardiol.2019.47969  

Rare presentation and wide intrafamilial variability of Fabry disease: case report and review of the literature

Sebastian Militaru1, Robert Adam1, Lucian Dorobantu3, Paolo Ferrazzi3, Maria Iascone4, Viorica Radoi2, Gener Ismail5, Bogdan A. Popescu1, Ruxandra Jurcut1
1Department Of Cardiology, Expert Center Of Rare Genetic Cardiovascular Disease, Euroecolab, Emergency Institute Of Cardiovascular Diseases Prof. Dr. C. C. Iliescu , Bucharest, Romania
2University Of Medicine And Pharmacy Carol Davila Bucharest, Romania
3Monza Clinical Hospital, Bucharest, Romania
4Laboratorio Di Genetica Medica, Asst Papa Giovanni Xxiii, Bergamo, Italy
5Fundeni Clinical Institute, Bucharest, Romania

Keywords: Fabry disease, hypertrophic obstructive cardiomyopathy, GLA mutation, myectomy, intrafamilial variability




Corresponding Author: Ruxandra Jurcut, Romania


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