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Development of Mass Spectrometry-Based Assays for Newborn Screening: Novel Approaches to Lysosomal Acid Lipase and the Mucopolysaccharidoses

机译：新生儿筛查基于质谱的测定的研制：新生儿溶酶酸脂肪酶和粘性多糖的方法

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作者
Masi, Sophia.;
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作者单位

University of Washington.;

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授予单位 University of Washington.;
学科
学位 Ph.D.
年度 2018
页码 121 p.
总页数 121
原文格式 PDF
正文语种 eng
中图分类 AAI10825712;
关键词
Lysosomal acid lipase; Mass spectrometry-based assays; Mucopolysaccharidoses; Newborn screening;

机译：溶酶体酸脂肪酶;基于质谱的分析;粘性多葡萄糖;新生儿筛查;

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1. Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI [J] . Kumar Arun Babu, Masi Sophia, Ghomashchi Farideh, Clinical Chemistry: Journal of the American Association for Clinical Chemists . 2015,第11期

机译：串联质谱分析的范围比溶酶体酶的荧光测定法大：在II型，IVA型和VI型粘多糖酶的新生儿筛查和诊断中的应用
2. Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI [J] . Arun Babu Kumar, C. Ronald Scott, Farideh Ghomashchi, Clinical Chemistry: Journal of the American Association for Clinical Chemists . 2015,第11期

机译：串联质谱法比溶酶体酶的荧光分析法具有更大的分析范围：在II型，IVA型和VI型粘多糖酶的新生儿筛查和诊断中的应用
3. 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 [J] . OrsiniJ.J., MartinM.M., ShowersA.L., Clinica chimica acta: International journal of clinical chemistry and applied molecular biology . 2012,第15a16期

机译：用于串联筛查新生儿筛查的溶酶体贮积病4 + 1多重测定：在五个溶酶体贮积病的小规模人群研究中的应用
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. Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II IVA and VI [O] . Arun Babu Kumar, Sophia Masi, Farideh Ghomashchi, -1

机译：串联质谱分析的范围比溶酶体酶的荧光测定法大：在II型IVA型和VI型粘多糖酶的新生儿筛查和诊断中的应用
7. MALDI-TOF mass spectrometry-based assay for CFTR gene mutation analysis in cystic fibrosis newborn screening programs [O] . Raña-Díez P., Colón C., Alonso-Fernández J.R., 2009

机译：基于MALDI-TOF质谱的囊性纤维化新生儿筛查程序中CFTR基因突变分析的方法

Development of Mass Spectrometry-Based Assays for Newborn Screening: Novel Approaches to Lysosomal Acid Lipase and the Mucopolysaccharidoses

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