Jun Qiang Zhou , Kuldeep Dhillon , Jeffrey Aduviso , Long Nguyen , Alexander Cruz , Daniel Simon , Jamie Matteson , Sarah Carter , Tracey Bishop , Rajesh Sharma
{"title":"P057:通过增加第二级UPLC-MS/MS测试来减少新生儿胍苷乙酸甲基转移酶缺乏症的假阳性","authors":"Jun Qiang Zhou , Kuldeep Dhillon , Jeffrey Aduviso , Long Nguyen , Alexander Cruz , Daniel Simon , Jamie Matteson , Sarah Carter , Tracey Bishop , Rajesh Sharma","doi":"10.1016/j.gimo.2025.102901","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102901"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"P057: Reducing the false positive for guanidinoacetate methyltransferase enzyme deficiency in newborns by the addition of a second tier UPLC-MS/MS test\",\"authors\":\"Jun Qiang Zhou , Kuldeep Dhillon , Jeffrey Aduviso , Long Nguyen , Alexander Cruz , Daniel Simon , Jamie Matteson , Sarah Carter , Tracey Bishop , Rajesh Sharma\",\"doi\":\"10.1016/j.gimo.2025.102901\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":100576,\"journal\":{\"name\":\"Genetics in Medicine Open\",\"volume\":\"3 \",\"pages\":\"Article 102901\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genetics in Medicine Open\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2949774425009409\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetics in Medicine Open","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2949774425009409","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
P057: Reducing the false positive for guanidinoacetate methyltransferase enzyme deficiency in newborns by the addition of a second tier UPLC-MS/MS test