{"title":"发展中国家三级医院新生儿先天性代谢错误发生率分析","authors":"R. Mizanur, Fatema Kanij, Shahidullah","doi":"10.36959/595/402","DOIUrl":null,"url":null,"abstract":"The term “inborn errors of metabolism” (IEM), also referred to as congenital metabolic diseases, is described as the hereditary deficiency of enzymes or alteration in protein structure and function resulting in metabolic derangement that may have pathologic consequences [1]. These disorders result in substrate accumulation causing minor to severe neurological and psychiatric manifestations resulting in lifelong disability or death [2].","PeriodicalId":432995,"journal":{"name":"Journal of Pediatric Neurology and Neuroscience","volume":"33 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2018-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"14","resultStr":"{\"title\":\"Incidence of Inborn Errors of Metabolism in Sick Neonates in a Tertiary Care Hospital in Developing Country\",\"authors\":\"R. Mizanur, Fatema Kanij, Shahidullah\",\"doi\":\"10.36959/595/402\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The term “inborn errors of metabolism” (IEM), also referred to as congenital metabolic diseases, is described as the hereditary deficiency of enzymes or alteration in protein structure and function resulting in metabolic derangement that may have pathologic consequences [1]. These disorders result in substrate accumulation causing minor to severe neurological and psychiatric manifestations resulting in lifelong disability or death [2].\",\"PeriodicalId\":432995,\"journal\":{\"name\":\"Journal of Pediatric Neurology and Neuroscience\",\"volume\":\"33 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-09-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"14\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Pediatric Neurology and Neuroscience\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.36959/595/402\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric Neurology and Neuroscience","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.36959/595/402","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Incidence of Inborn Errors of Metabolism in Sick Neonates in a Tertiary Care Hospital in Developing Country
The term “inborn errors of metabolism” (IEM), also referred to as congenital metabolic diseases, is described as the hereditary deficiency of enzymes or alteration in protein structure and function resulting in metabolic derangement that may have pathologic consequences [1]. These disorders result in substrate accumulation causing minor to severe neurological and psychiatric manifestations resulting in lifelong disability or death [2].