脑磁共振成像在有机酸中毒:单一中心的经验

Pediatric Sciences Journal Pub Date : 2023-07-01 DOI:10.21608/cupsj.2023.218859.1098

M. Ibrahim, Marian Y. Girgis, Sara Nassar, H. Seif, S. Kamel, Mona Kamel

{"title":"脑磁共振成像在有机酸中毒:单一中心的经验","authors":"M. Ibrahim, Marian Y. Girgis, Sara Nassar, H. Seif, S. Kamel, Mona Kamel","doi":"10.21608/cupsj.2023.218859.1098","DOIUrl":null,"url":null,"abstract":": Background: Organic acidemias (OAs) are a group of inherited diseases with a defect of amino acid metabolism, unless treatment is initiated early in life, they cause serious central nervous system (CNS) complications as seizures, encephalopathy and others. Pre-symptomatic diagnosis is achieved within neonatal screening programs, otherwise the diagnosis is delayed and challenging. Aim of work","PeriodicalId":153483,"journal":{"name":"Pediatric Sciences Journal","volume":"54 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Brain Magnetic Resonance Imaging in Organic Acidemias: A Single Center Experience\",\"authors\":\"M. Ibrahim, Marian Y. Girgis, Sara Nassar, H. Seif, S. Kamel, Mona Kamel\",\"doi\":\"10.21608/cupsj.2023.218859.1098\",\"DOIUrl\":null,\"url\":null,\"abstract\":\": Background: Organic acidemias (OAs) are a group of inherited diseases with a defect of amino acid metabolism, unless treatment is initiated early in life, they cause serious central nervous system (CNS) complications as seizures, encephalopathy and others. Pre-symptomatic diagnosis is achieved within neonatal screening programs, otherwise the diagnosis is delayed and challenging. Aim of work\",\"PeriodicalId\":153483,\"journal\":{\"name\":\"Pediatric Sciences Journal\",\"volume\":\"54 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Sciences Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.21608/cupsj.2023.218859.1098\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Sciences Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.21608/cupsj.2023.218859.1098","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}

引用次数: 0

摘要

背景:有机酸血症(OAs)是一组氨基酸代谢缺陷的遗传性疾病，除非在生命早期开始治疗，否则会引起严重的中枢神经系统(CNS)并发症，如癫痫发作、脑病等。症状前诊断是在新生儿筛查项目中实现的，否则诊断就会延迟和具有挑战性。工作目的

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Brain Magnetic Resonance Imaging in Organic Acidemias: A Single Center Experience

: Background: Organic acidemias (OAs) are a group of inherited diseases with a defect of amino acid metabolism, unless treatment is initiated early in life, they cause serious central nervous system (CNS) complications as seizures, encephalopathy and others. Pre-symptomatic diagnosis is achieved within neonatal screening programs, otherwise the diagnosis is delayed and challenging. Aim of work

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Pediatric Sciences Journal

自引率

0.00%

发文量