PNC2 (SLC25A36)缺乏与高胰岛素血症/高氨血症综合征相关

{"title":"PNC2 (SLC25A36)缺乏与高胰岛素血症/高氨血症综合征相关","authors":"Shahrour Ma, Lasorsa Fm, Porcelli V, Dweikat I, D. Ma, Gur M, A. G., Shaag A, Rinaldi T, Gasparre G, Guerra F, Castegna A, Todisco S, A. B., Elpeleg O, Palmieri L","doi":"10.1530/ey.19.2.5","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"2 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome\",\"authors\":\"Shahrour Ma, Lasorsa Fm, Porcelli V, Dweikat I, D. Ma, Gur M, A. G., Shaag A, Rinaldi T, Gasparre G, Guerra F, Castegna A, Todisco S, A. B., Elpeleg O, Palmieri L\",\"doi\":\"10.1530/ey.19.2.5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":23743,\"journal\":{\"name\":\"Yearbook of Paediatric Endocrinology\",\"volume\":\"2 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-09-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Yearbook of Paediatric Endocrinology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1530/ey.19.2.5\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Yearbook of Paediatric Endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1530/ey.19.2.5","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}