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Anderson–Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement

Anderson–Fabry disease (AFD) is a lysosome storage disorder resulting from an X-linked inheritance of a mutation in the galactosidase A (GLA) gene encoding for the enzyme alpha-galactosidase A (α-GAL A). This mutation results in a deficiency or absence of α-GAL A activity, with a progressive intrace...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: Annamaria Iorio, Fabiana Lucà, Andrea Pozzi, Carmelo Massimiliano Rao, Cristina Chimenti, Stefania Angela Di Fusco, Roberta Rossini, Giorgio Caretta, Stefano Cornara, Simona Giubilato, Irene Di Matteo, Concetta Di Nora, Anna Pilleri, Sandro Gelsomino, Roberto Ceravolo, Carmine Riccio, Massimo Grimaldi, Furio Colivicchi, Fabrizio Oliva, Michele Massimo Gulizia, the Cardiac Rare Diseases Working Group Associazione Nazionale Medici Cardiologi Ospedalieri (ANMCO)
Hōputu: Artigo
Reo:Inglês
I whakaputaina: MDPI AG 2024-01-01
Rangatū:Diagnostics
Ngā marau:
Anderson–Fabry disease
cardiomyopathy
cardiac involvement
diagnostic red flags
left ventricular dysfunction
Urunga tuihono:https://www.mdpi.com/2075-4418/14/2/208
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