{"title":"新生儿表现为乳酸性酸中毒、肌张力低下、脑病和小管病:可能与rrm2b相关的脑肌病线粒体DNA缺失综合征","authors":"T. Suriapperuma, C. Weeraratne, J. Wanigasinghe","doi":"10.4038/sljpm.v3i1.39","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":273627,"journal":{"name":"Sri Lanka Journal of Perinatal Medicine","volume":"57 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2022-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A neonate presenting with lactic acidosis, hypotonia, encephalopathy and tubulopathy: Possible RRM2Brelated encephalomyopathic mitochondrial DNA depletion syndrome\",\"authors\":\"T. Suriapperuma, C. Weeraratne, J. Wanigasinghe\",\"doi\":\"10.4038/sljpm.v3i1.39\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":273627,\"journal\":{\"name\":\"Sri Lanka Journal of Perinatal Medicine\",\"volume\":\"57 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-05-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Sri Lanka Journal of Perinatal Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4038/sljpm.v3i1.39\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Sri Lanka Journal of Perinatal Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4038/sljpm.v3i1.39","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A neonate presenting with lactic acidosis, hypotonia, encephalopathy and tubulopathy: Possible RRM2Brelated encephalomyopathic mitochondrial DNA depletion syndrome