Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening,In SilicoPredictions, and Molecular Studies
出版年份 2013 全文链接
标题
Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening,In SilicoPredictions, and Molecular Studies
作者
关键词
-
出版物
TheScientificWorldJOURNAL
Volume 2013, Issue -, Pages 1-8
出版商
Hindawi Limited
发表日期
2013-11-01
DOI
10.1155/2013/625824
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes
- (2013) Catharina ML Touw et al. Orphanet Journal of Rare Diseases
- Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening
- (2012) Sharon Anderson et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: Identification of a novel variant
- (2012) Georgia Thodi et al. CLINICAL BIOCHEMISTRY
- MCAD deficiency in Denmark
- (2012) Brage Storstein Andresen et al. MOLECULAR GENETICS AND METABOLISM
- Sequencing from dried blood spots in infants with “false positive” newborn screen for MCAD deficiency
- (2012) Shawn E. McCandless et al. MOLECULAR GENETICS AND METABOLISM
- Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
- (2012) Catharina M L Touw et al. Orphanet Journal of Rare Diseases
- Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: Prevalence, predictive value and test validity based on 1.5 million screened babies
- (2011) Juliet Oerton et al. JOURNAL OF MEDICAL SCREENING
- Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening
- (2010) Roman Yusupov et al. MOLECULAR GENETICS AND METABOLISM
- ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids
- (2010) H. Ashkenazy et al. NUCLEIC ACIDS RESEARCH
- Automated inference of molecular mechanisms of disease from amino acid substitutions
- (2009) B. Li et al. BIOINFORMATICS
- Validation of MCADD newborn screening
- (2009) EM Maier et al. CLINICAL GENETICS
- Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening
- (2009) Esther M. Maier et al. HUMAN MOLECULAR GENETICS
- Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State
- (2009) Georgianne L. Arnold et al. MOLECULAR GENETICS AND METABOLISM
- A Novel Tandem Mass Spectrometry Method for Rapid Confirmation of Medium- and Very Long-Chain acyl-CoA Dehydrogenase Deficiency in Newborns
- (2009) Frank ter Veld et al. PLoS One
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