J. L. Pena, Igor de Souza, Alice Pinheiro Barbosa, Dinamar Amador dos Santos
{"title":"PRKAG2综合征的超声心动图特征:综合回顾","authors":"J. L. Pena, Igor de Souza, Alice Pinheiro Barbosa, Dinamar Amador dos Santos","doi":"10.36660/abcimg.20230047i","DOIUrl":null,"url":null,"abstract":"PRKAG2 syndrome is a rare, early-onset, autosomal dominant, inherited lysosomal glycogen storage disease that develops with ventricular preexcitation syndrome, supraventricular arrhythmias, and cardiac hypertrophy. The disease is caused by mutations in the gene encoding the adenosine monophosphate-activated protein kinase (AMPK)","PeriodicalId":217289,"journal":{"name":"ABC Imagem Cardiovascular","volume":"31 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Echocardiographic Characteristics of PRKAG2 Syndrome: An Integrative Review\",\"authors\":\"J. L. Pena, Igor de Souza, Alice Pinheiro Barbosa, Dinamar Amador dos Santos\",\"doi\":\"10.36660/abcimg.20230047i\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"PRKAG2 syndrome is a rare, early-onset, autosomal dominant, inherited lysosomal glycogen storage disease that develops with ventricular preexcitation syndrome, supraventricular arrhythmias, and cardiac hypertrophy. The disease is caused by mutations in the gene encoding the adenosine monophosphate-activated protein kinase (AMPK)\",\"PeriodicalId\":217289,\"journal\":{\"name\":\"ABC Imagem Cardiovascular\",\"volume\":\"31 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"ABC Imagem Cardiovascular\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.36660/abcimg.20230047i\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"ABC Imagem Cardiovascular","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.36660/abcimg.20230047i","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Echocardiographic Characteristics of PRKAG2 Syndrome: An Integrative Review
PRKAG2 syndrome is a rare, early-onset, autosomal dominant, inherited lysosomal glycogen storage disease that develops with ventricular preexcitation syndrome, supraventricular arrhythmias, and cardiac hypertrophy. The disease is caused by mutations in the gene encoding the adenosine monophosphate-activated protein kinase (AMPK)
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
