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Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

机译：用串联质谱筛选新生儿筛选检测到升高的丁二醇和异丁酰基肉碱的代谢疾病

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Dwight D Koeberl; Sarah P Young; Niels Gregersen; Jerry Vockley; Wendy E Smith; Daniel Kelly Benjamin; Yan An; Susan D Weavil; Shu H Chaing; Deeksha Bali; Marie T McDonald; Priya S Kishnani; Y-T Chen; David S Millington;
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1. 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
2. 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
3. Expanded newborn screening and confirmatory follow-up testing for inborn errors of metabolism detected by tandem mass spectrometry [J] . OzbenT. Clinical chemistry and laboratory medicine: CCLM . 2013,第1期

机译：扩大了新生儿筛查和确认性后续检测，以检测串联质谱检测到的先天性代谢错误
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. Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disorders [O] . Joseph J. Orsini, Monica M. Martin, Amanda L. Showers, -1

机译：使用串联质谱法进行新生儿筛选的溶酶体储存障碍4 + 1多重测定：适用于五种溶酶体储存障碍的小规模群体研究
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

Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

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