The clinico-radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome,Molecular Genetics & Genomic Medicine

当前位置： X-MOL 学术 › Mol. Genet. Genomic Med. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

The clinico-radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2021-08-25 , DOI: 10.1002/mgg3.1790
Montaser M Mohamed ₁ , Mohamed A Bakheet ₂ , Rofaida M Magdy ₃ , Heba S El-Abd ₄ , Mohamad Hasan Alam-Eldeen ₅ , Hany M Abo-Haded ₆

Affiliation

Maple syrup urine disease (MSUD) is an autosomal recessive inborn error of amino acid metabolism, with unique clinico-radiological findings. This study aims to show the benefit of using the clinico-radiological findings for early diagnosis of children with MSUD, and confirming this diagnosis using the tandem mass spectrometry (MS/MS), in order to avoid deleterious outcome.

中文翻译：

一组埃及儿童中 MSUD 的临床放射学发现：对早期诊断和结果的贡献

枫糖浆尿病 (MSUD) 是一种常染色体隐性遗传的氨基酸代谢先天性错误，具有独特的临床放射学发现。本研究旨在展示使用临床放射学结果对儿童 MSUD 进行早期诊断的益处，并使用串联质谱 (MS/MS) 确认该诊断，以避免有害结果。

更新日期：2021-08-25

点击分享查看原文

点击收藏

公开下载

阅读更多本刊最新论文本刊介绍/投稿指南11