Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70

机译：新生儿筛查莫尔基奥病和其他溶酶体贮积病：8重分析法检测70种结果

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Incidence of the eight conditions screened by the 8-plex assay

机译：通过8-plex分析筛选的八种疾病的发生率

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期刊名称 Orphanet Journal of Rare Diseases
作者
Yin-Hsiu Chien; Ni-Chung Lee; Pin-Wen Chen; Hui-Ying Yeh; Michael H. Gelb; Pao-Chin Chiu; Shao-Yin Chu; Chen-Hao Lee; An-Ru Lee; Wuh-Liang Hwu;
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作者单位

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年(卷),期 2020(15),-1
年度 2020
页码 -1
总页数 7
原文格式 PDF
正文语种
中图分类医学史;
关键词
Lysosomal storage disease; Mucopolysaccharidosis; Multiplex newborn screening; Morquio disease; MPS4A; Tandem mass spectrometry;

机译：溶酶体贮积病;粘多糖贮积病;新生儿多重筛查;Morquio病;MPS4A;串联质谱;

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1. Newborn screening for Morquio syndrome: Results from the 8-plex assay for 70,000 newborns [J] . Molecular genetics and metabolism . 2020,第2期

机译：Morquio综合征新生儿筛查：8-Plex测定的结果为70,000名新生儿
2. Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns. [J] . Sista RS, Eckhardt AE, Wang T, Clinical Chemistry: Journal of the American Association for Clinical Chemists . 2011,第10期

机译：用于多重酶分析的数字微流控平台：对新生儿溶酶体贮积病筛查的意义。
3. Digital Microfluidic Platform for Multiplexing Enzyme Assays: Implications for Lysosomal Storage Disease Screening in Newborns [J] . Adviye A. Tolun, Allen E. Eckhardt, Carrie Graham, Clinical Chemistry: Journal of the American Association for Clinical Chemists . 2011,第10期

机译：用于复合酶测定的数字微流控平台：新生儿溶酶体贮积病筛查的意义
4. Multiplex Newborn Screening of Lysosomal Storage Diseases Using Flow Injection Tandem Mass Spectrometry [C] . Mariana Barcenas, Martin Sadilek, Frantisek Turecek, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2013

机译：利用流注射串联质谱法多重新生儿筛查溶酶体储存疾病
5. Development of Mass Spectrometry-Based Assays for Newborn Screening: Novel Approaches to Lysosomal Acid Lipase and the Mucopolysaccharidoses [D] . Masi, Sophia. 2018

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
6. The Importance of Assay Imprecision near the Screen Cutoff for Newborn Screening of Lysosomal Storage Diseases [O] . Bruce H. Robinson, Michael H. Gelb -1

机译：筛查截止点附近测定不精确度对于新生儿筛查溶酶体贮积病的重要性
7. Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns [O] . Yin-Hsiu Chien, Ni-Chung Lee, Pin-Wen Chen, 2020

机译：Morquio疾病和其他溶酶体储存疾病的新生儿筛查：8-Plex测定的结果为70,000名新生儿
8. Sickle Cell Disease: Screening, Diagnosis, Management, and Counseling in Newborns and Infants. Clinical Practice Guideline Number 6; Sickle Cell Disease: Comprehensive Screening and Management in Newborns and Infants. Quick Reference Guide for Clinicians Number 6; Sickle Cell Disease in Newborns and Infants. A Guide for Parents [R] . 1993

机译：镰状细胞病：新生儿和婴儿的筛查，诊断，管理和咨询。临床实践指南第6号;镰状细胞病：新生儿和婴儿的综合筛查和管理。第6号临床医生快速参考指南;新生儿和婴儿的镰状细胞病。家长指南

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70

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