PRKAG2 Syndrome: Is Screening with Early Echocardiography Effective in Children with a Positive Genotype?
作者信息
Assunção Maria Elisa Lucena Sales de Melo, da Silva Norma Lucena Cavalcanti Licínio, Silva Mychelle Pascoaline de Miranda
机构信息
Universidade de Pernambuco - Pronto Socorro Cardiológico de Pernambuco, Recife, PE - Brasil.
Instituto Aggeu Magalhães - Fiocruz, Recife, PE - Brasil.
出版信息
Arq Bras Cardiol. 2024 Sep 27;121(8):e20240543. doi: 10.36660/abc.20240543. eCollection 2024.
Abstract
摘要
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本文引用的文献
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Biallelic Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies.双等位基因截短变异与严重新生儿心肌病相关。
Circ Genom Precis Med. 2023 Jun;16(3):277-279. doi: 10.1161/CIRCGEN.122.003881. Epub 2023 Apr 4.
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Right Ventricle Involvement by Glycogen Storage Cardiomyopathy (PRKAG2): Standard and Advanced Echocardiography Analyses.糖原贮积型心肌病（PRKAG2）右心室受累：标准和高级超声心动图分析。
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Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation.左心室致密化不全心肌病伴 PRKAG2 突变。
BMC Med Genomics. 2022 Oct 11;15(1):214. doi: 10.1186/s12920-022-01361-2.
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Echocardiographic characteristics of PRKAG2 syndrome: a research using three-dimensional speckle tracking echocardiography compared with sarcomeric hypertrophic cardiomyopathy.PRKAG2 综合征的超声心动图特征：应用三维斑点追踪超声心动图与心肌肥厚型心肌病对比的研究。
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6
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