{"title":"ETFDH基因复合杂合突变所致脂质沉积性肌病1例。","authors":"Yadan Li, Guangzhi Xiao, Xianghui Fu, Junfeng Jia, Zhaohui Zheng","doi":"10.1093/rap/rkaf056","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 3","pages":"rkaf056"},"PeriodicalIF":2.1000,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202141/pdf/","citationCount":"0","resultStr":"{\"title\":\"Lipid deposition myopathy due to compound heterozygous mutation in the <i>ETFDH</i> gene: a case report.\",\"authors\":\"Yadan Li, Guangzhi Xiao, Xianghui Fu, Junfeng Jia, Zhaohui Zheng\",\"doi\":\"10.1093/rap/rkaf056\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":21350,\"journal\":{\"name\":\"Rheumatology Advances in Practice\",\"volume\":\"9 3\",\"pages\":\"rkaf056\"},\"PeriodicalIF\":2.1000,\"publicationDate\":\"2025-05-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202141/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Rheumatology Advances in Practice\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1093/rap/rkaf056\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"RHEUMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rheumatology Advances in Practice","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/rap/rkaf056","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"RHEUMATOLOGY","Score":null,"Total":0}
引用次数: 0