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Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening

机译：串联质谱新生儿筛查发现C4-肉碱升高的儿童IBD（ACAD8）的变化

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Pedersen, Christina B; Bischoff, Claus; Christensen, Ernst; Simonsen, Henrik; Lund, Allan M; Young, Sarah P; Koeberl, Dwight D; Millington, David S; Roe, Charles R; Roe, Diane S; Wanders, Ronald J A; Ruiter, Jos P N; Keppen, Laura D; Stein, Quinn; Knudsen, Inga; Gregersen, Niels; Andresen, Brage S;
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年度 2006
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正文语种 eng
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1. Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening [J] . Christina B Pedersen, Claus Bischoff, Ernst Christensen, Pediatric Research . 2006,第3期

机译：串联质谱检测新生儿C4-肉碱升高儿童IBD（ACAD8）的变化
2. Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening. [J] . Yoo EH, Cho HJ, Ki CS, Clinical chemistry and laboratory medicine: CCLM . 2007,第11期

机译：通过串联质谱新生儿筛查检测到的异丁酰-CoA脱氢酶缺乏症与一个新的ACAD8基因突变。
3. Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening [J] . Dwight D Koeberl, Sarah P Young, Niels Gregersen, Pediatric Research . 2003,第2期

机译：通过串联质谱检测到的罕见的代谢异常的丁酰和异丁酰肉碱升高
4. New approaches to multiplex newborn screening of lysosomal storage disorders by tandem mass spectrometry [C] . Frantisek Turecek, Mariana Barcenas, C. Ronald Scott, International Mass Spectrometry Conference . 2014

机译：用串联质谱法多用新生儿筛查溶酶体储存障碍的新方法
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. Evaluation of a Common Internal Standard Material to Reduce Inter-Laboratory Variation and Ensure the Quality Safety and Efficacy of Expanded Newborn Screening Results When Using Flow Injection Analysis Tandem Mass Spectrometry with Internal Calibration [O] . Rachel S. Carling, Catharine John, Philippa Goddard, 2020

机译：评估常见的内标材料以降低实验室间变异并确保使用流喷液分析与内部校准的串联质谱时扩增的新生儿筛选结果的质量安全性和功效
7. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening [O] . Pedersen, Christina B., Bischoff, Claus, Christensen, Ernst, 2006

机译：串联质谱新生儿筛查发现C4-肉碱升高的儿童IBD（ACAD8）的变化
8. Mass Spectrometry/Mass Spectrometry as a Screening Method for Detecting Explosive Vapors [R] . Glish, G. L., McLuckey, S. A., Carter, J. A. 1984

机译：质谱/质谱作为检测爆炸性蒸汽的筛选方法

Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening

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