2021 TSOC Expert Consensus on the Clinical Features, Diagnosis, and Clinical Management of Cardiac Manifestations of Fabry Disease

Fabry disease (FD) is an X-linked, rare inherited lysosomal storage disease caused by α-galactosidase A gene variants resulting in deficient or undetectable α-galactosidase A enzyme activity. Progressive accumulation of pathogenic globotriaosylceramide and its deacylated form globotriaosylsphingosin...

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Veröffentlicht in:	Acta Cardiologica Sinica 2021-07, Vol.37 (4), p.337-354
Hauptverfasser:	Hung, Chung-Lieh, Wu, Yen-Wen, Lin, Chih-Chan, Lai, Chih-Hung, Jyh-Ming Juang, Jimmy, Chao, Ting-Hsing, Kuo, Ling, Sung, Kuo-Tzu, Wang, Chao-Yung, Wang, Chun-Li, Chu, Chun-Yuan, Yu, Wen-Chung, Hou, Charles Jia-Yin
Format:	Artikel
Sprache:	eng
Schlagworte:	Cardiac magnetic resonance (CMR) Cardiac variant Chaperone Consensus Enzyme replacement therapy (ERT) Fabry disease (FD) Globotriaosylceramide (Gb3) Globotriaosylsphingosine (Lyso-Gb3) IVS4+919G＞A MEDLINE Review SCIE Scopus α-galactosidase A (GLA) gene
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