伪装成脑瘫的 GNE 致病变体导致的 Sialuria

{"title":"伪装成脑瘫的 GNE 致病变体导致的 Sialuria","authors":"Vykuntaraju K. Gowda, A. Roy, Varunvenkat M Srinivasan","doi":"10.25259/kpj_10_2024","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":499914,"journal":{"name":"Karnataka paediatric journal","volume":"84 3","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Sialuria due to GNE pathogenic variant masquerading as cerebral palsy\",\"authors\":\"Vykuntaraju K. Gowda, A. Roy, Varunvenkat M Srinivasan\",\"doi\":\"10.25259/kpj_10_2024\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":499914,\"journal\":{\"name\":\"Karnataka paediatric journal\",\"volume\":\"84 3\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-06-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Karnataka paediatric journal\",\"FirstCategoryId\":\"0\",\"ListUrlMain\":\"https://doi.org/10.25259/kpj_10_2024\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Karnataka paediatric journal","FirstCategoryId":"0","ListUrlMain":"https://doi.org/10.25259/kpj_10_2024","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}