Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference

Fabry disease (FD) is a multiorgan disease, which can potentially affect any organ or tissue, with the heart, kidneys, and central nervous system representing the major disease targets. FD can be suspected based on the presence of specific red flags, and the subsequent evaluation of the α-Gal A acti...

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Prif Awduron:	Marta Rubino, Emanuele Monda, Martina Caiazza, Giuseppe Palmiero, Michele Lioncino, Annapaola Cirillo, Adelaide Fusco, Federica Verrillo, Alessia Perna, Gaetano Diana, Federica Amodio, Arturo Cesaro, Giovanni Duro, Berardo Sarubbi, Maria Giovanna Russo, Paolo Calabrò, Giuseppe Limongelli
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	MDPI AG 2022-02-01
Cyfres:	Cardiogenetics
Pynciau:	Fabry disease congenital heart defect clinical markers enzyme replacement therapy migalastat cascade program screening
Mynediad Ar-lein:	https://www.mdpi.com/2035-8148/12/1/10
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!