https://scholars.lib.ntu.edu.tw/handle/123456789/433930
標題: | Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia | 作者: | JYH-MING JIMMY JUANG CHIA-TUNG SHUN YIH-SHARNG CHEN WUH-LIANG HWU NI-CHUNG LEE Tsai W.-H. Chen N.-Q. YIN-HSIU CHIEN |
公開日期: | 2019 | 出版社: | Nature Publishing Group | 卷: | 21 | 期: | 8 | 起(迄)頁: | 1890-1891 | 來源出版物: | Genetics in Medicine | URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85060344212&doi=10.1038%2fs41436-019-0436-y&partnerID=40&md5=938904ff940437d5aa70f86f73e3a681 https://scholars.lib.ntu.edu.tw/handle/123456789/433930 |
ISSN: | 1098-3600 | DOI: | 10.1038/s41436-019-0436-y | SDG/關鍵字: | adenine; agalsidase alfa; brain natriuretic peptide; guanine; alpha galactosidase; ceramide trihexoside; globotriaosylceramide; adult; aged; cardiomyopathy; cardiovascular magnetic resonance; case report; chest tightness; clinical article; disease severity; dyspnea; echocardiography; electrocardiogram; enzyme replacement; Fabry disease; faintness; fatality; genetic association; genetic screening; genetic variability; heart arrhythmia; heart atrium enlargement; heart ejection fraction; heart left bundle branch block; heart left ventricle hypertrophy; heart muscle biopsy; heart muscle fibrosis; heart ventricle extrasystole; heart ventricle hypertrophy; heterozygote; human; human cell; human tissue; intracardiac thrombosis; Letter; lymphocytic infiltration; male; middle aged; muscle atrophy; paroxysmal atrial fibrillation; treatment response; biopsy; cardiomyopathy; Fabry disease; heart arrhythmia; lysosome; alpha-Galactosidase; Arrhythmias, Cardiac; Biopsy; Cardiomyopathies; Fabry Disease; Humans; Lysosomes; Trihexosylceramides |
顯示於: | 醫學系 |
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