患有 UGT1A1 双错义变异的新生儿高胆红素血症的兄弟姐妹。

{"title":"患有 UGT1A1 双错义变异的新生儿高胆红素血症的兄弟姐妹。","authors":"Yoshiki Kubota, Takeshi Sato, Mai Matsuyama, Yoshihiro Maruo, Satoshi Narumi, Tomohiro Ishii, Tomonobu Hasegawa","doi":"10.1297/cpe.2024-0028","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11234179/pdf/","citationCount":"0","resultStr":"{\"title\":\"Siblings of neonatal hyperbilirubinemia with <i>UGT1A1</i> double missense variants.\",\"authors\":\"Yoshiki Kubota, Takeshi Sato, Mai Matsuyama, Yoshihiro Maruo, Satoshi Narumi, Tomohiro Ishii, Tomonobu Hasegawa\",\"doi\":\"10.1297/cpe.2024-0028\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":10678,\"journal\":{\"name\":\"Clinical Pediatric Endocrinology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11234179/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Pediatric Endocrinology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1297/cpe.2024-0028\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/5/25 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Pediatric Endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1297/cpe.2024-0028","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/25 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}