首页> 美国卫生研究院文献>Frontiers in Pediatrics >Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots—A Systematic Review of Test Accuracy

【2h】

Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots—A Systematic Review of Test Accuracy

机译：新生儿对长链3-羟基乙酰辅酶脱氢酶和线粒体三官能蛋白缺乏在干血斑中使用酰基甘油碱测量的缺乏 - 一种测试精度的系统综述

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

著录项
相似文献
相关主题

著录项

期刊名称 Frontiers in Pediatrics
作者
Chris Stinton; Hannah Fraser; Julia Geppert; Rebecca Johnson; Martin Connock; Samantha Johnson; Aileen Clarke; Sian Taylor-Phillips;
展开▼
作者单位

展开▼
年(卷),期 2021(-1),-1
年度 2021
页码 -1
总页数 9
原文格式 PDF
正文语种
中图分类儿科学;
关键词
systematic review; test accuracy; LCHAD deficiency; MTP deficiency; newborn blood spot screening;

机译：系统评价;测试精度;LCHAD缺乏;MTP缺乏;新生儿血液点筛查;

相似文献

外文文献
中文文献
专利

1. Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots—A Systematic Review of Test Accuracy [J] . Chris Stinton, Hannah Fraser, Julia Geppert, Frontiers in Pediatrics . 2021,第a期

机译：新生儿筛选长链3-羟基乙酰辅酶脱氢酶和线粒体三官能蛋白缺乏在干血斑中使用酰基甘油碱测量 - 测试精度的系统综述
2. Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review [J] . Hannah Fraser, Julia Geppert, Rebecca Johnson, Orphanet journal of rare diseases . 2019,第1期

机译：早期评价与后期膳食管理在长链3-羟基乙酰-CoA脱氢酶或线粒体三官能蛋白缺乏：系统审查
3. Deregulation of mitochondrial functions provoked by long-chain 3-hydroxylated fatty acids accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies in rat heart - mitochondrial permeability transition pore opening as a potential contributing pathomechanism of cardiac alterations in these disorders (vol 282, pg 4714, 2015) [J] . Cecatto C., Hickmann F. H., Rodrigues M. D. N., The FEBS journal . 2016,第5期

机译：堆积在大鼠心脏中的长链3-羟基酰基-CoA脱氢酶和线粒体三功能蛋白缺乏引起的长链3-羟基化脂肪酸引起的线粒体功能失调-线粒体通透性转变孔的开放可能是这些疾病中心脏改变的潜在致病机制（第282卷，第4714页，2015）
4. Potential Interferences in the MS/MS Analysis of Acylcarnitines and Amino Acids in Dried Blood Spots Provide Important Clinical Information in Newborn and Metabolic Screening [C] . Donald H. Chace, Victor R. De Jesus, Timothy H. Lim, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2010

机译：在干血斑中的酰基甘油碱和氨基酸的潜在干扰分析和干血斑中的氨基酸在新生儿和代谢筛查中提供重要的临床信息
5. Development of Newborn Screening Methods for Mucopolysaccharidosis III Type A and Type B in Dried Blood Spot Using Tandem Mass Spectrometry [D] . Yi, Fan. 2018

机译：使用串联质谱法，在干血液点粘性型A和型B型和型B的新生筛查方法的开发
6. Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency [O] . Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, 2018

机译：新生儿筛查线粒体三功能蛋白（MTP）/长链3-羟酰基-CoA脱氢酶（LCHAD）缺乏症的致命陷阱
7. Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency [O] . Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, 2018

机译：新生儿筛查对线粒体三官能蛋白（MTP）/长链3-羟基乙酰-COA脱氢酶（LCHAD）缺乏的致命缺陷

Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots—A Systematic Review of Test Accuracy

著录项

相似文献

相关主题

期刊订阅