Vittoria Rossi , Brittany Hoyle , Kim Ng , Ivy Elvin , Nicole Engelhardt
{"title":"P082:扩大磷酸氨基甲酰合成酶I缺乏症的临床范围:一个由四名患者组成的病例系列-一个高等教育机构的经验","authors":"Vittoria Rossi , Brittany Hoyle , Kim Ng , Ivy Elvin , Nicole Engelhardt","doi":"10.1016/j.gimo.2025.102926","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102926"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"P082: Expanding clinical spectrums in carbamoyl phosphate synthetase I deficiency: A case series of four patients - a tertiary institution’s experience\",\"authors\":\"Vittoria Rossi , Brittany Hoyle , Kim Ng , Ivy Elvin , Nicole Engelhardt\",\"doi\":\"10.1016/j.gimo.2025.102926\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":100576,\"journal\":{\"name\":\"Genetics in Medicine Open\",\"volume\":\"3 \",\"pages\":\"Article 102926\"},\"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/S2949774425009653\",\"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/S2949774425009653","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
P082: Expanding clinical spectrums in carbamoyl phosphate synthetase I deficiency: A case series of four patients - a tertiary institution’s experience