Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study
出版年份 2019 全文链接
标题
Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study
作者
关键词
-
出版物
Frontiers in Genetics
Volume 10, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2019-02-14
DOI
10.3389/fgene.2019.00086
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China
- (2018) Chi-Ju Yang et al. BMC Pediatrics
- Next generation sequencing as a follow-up test in an expanded newborn screening programme
- (2018) Andraz Smon et al. CLINICAL BIOCHEMISTRY
- Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population
- (2018) Kejian Guo et al. Frontiers in Genetics
- Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening
- (2017) Jicheng Qian et al. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges
- (2016) Zabedah Md. Yunus et al. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- Neonatal Screening for Inherited Metabolic Diseases in 2016
- (2016) Judit Garcia Villoria et al. Seminars in Pediatric Neurology
- Newborn Screening
- (2015) Susan A. Berry CLINICS IN PERINATOLOGY
- Expanded newborn screening by mass spectrometry: New tests, future perspectives
- (2015) Daniela Ombrone et al. MASS SPECTROMETRY REVIEWS
- Current status of newborn screening worldwide: 2015
- (2015) Bradford L. Therrell et al. SEMINARS IN PERINATOLOGY
- Neonatal screening programs
- (2014) Bekir Keskinkılıç CLINICAL BIOCHEMISTRY
- Spectrum Analysis of Common Inherited Metabolic Diseases in Chinese Patients Screened and Diagnosed by Tandem Mass Spectrometry
- (2014) Lianshu Han et al. JOURNAL OF CLINICAL LABORATORY ANALYSIS
- Expanded newborn screening in New South Wales: missed cases
- (2014) Jane Estrella et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Mass spectrometry in clinical chemistry: the case of newborn screening
- (2014) Giancarlo la Marca JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS
- The use of mass spectrometry to analyze dried blood spots
- (2014) Michel Wagner et al. MASS SPECTROMETRY REVIEWS
- Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8year journey from pilot to current program
- (2014) J.S. Lim et al. MOLECULAR GENETICS AND METABOLISM
- Next-generation sequencing in the clinic: Promises and challenges
- (2012) Jiekun Xuan et al. CANCER LETTERS
- The screening of inborn errors of metabolism in sick Chinese infants by tandem mass spectrometry and gas chromatography/mass spectrometry
- (2011) Weihua Sun et al. CLINICA CHIMICA ACTA
- Newborn screening
- (2008) Bridget Wilcken et al. PATHOLOGY
- Newborn bloodspot screening in the UK – past, present and future
- (2008) Melanie Downing et al. ANNALS OF CLINICAL BIOCHEMISTRY
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