{"title":"Virtual Academic Units within UK Infrastructure for Research that Benefits Infants, Children and Young People","authors":"Williams An","doi":"10.36959/595/404","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.","PeriodicalId":432995,"journal":{"name":"Journal of Pediatric Neurology and Neuroscience","volume":"16 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2019-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric Neurology and Neuroscience","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.36959/595/404","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
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.
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