A retrospective analysis of MS/MS screening for IEM in high-risk areas

[1]  I. Knerr,et al.  Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre , 2022, European Journal of Pediatrics.

[2]  Xia Li,et al.  Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population , 2022, Frontiers in Genetics.

[3]  Yiming Lin,et al.  Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening , 2021, Orphanet Journal of Rare Diseases.

[4]  Tizhen Yan,et al.  Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population , 2021, Frontiers in Genetics.

[5]  Jun Zhu,et al.  Incidence of inborn errors of metabolism detected by tandem mass spectrometry in China: A census of over seven million newborns between 2016 and 2017 , 2020, Journal of medical screening.

[6]  Ting Zhang,et al.  Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China. , 2020, Clinica chimica acta; international journal of clinical chemistry.

[7]  Y. Kong,et al.  Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing , 2020, Journal of pediatric endocrinology & metabolism : JPEM.

[8]  S. Zierz,et al.  Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach , 2020, Molecules.

[9]  Hongyu Zhao,et al.  Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes , 2020, Journal of inherited metabolic disease.

[10]  Dylan Mordaunt,et al.  Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism , 2020, International journal of molecular sciences.

[11]  Qinghe Guo,et al.  Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China , 2020, Journal of clinical laboratory analysis.

[12]  Xigui Chen,et al.  Newborn Screening and Diagnosis of Inborn Errors of Metabolism: A 5-year Study in An Eastern Chinese Population. , 2019, Clinica chimica acta; international journal of clinical chemistry.

[13]  Hong Li,et al.  Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population , 2019, Front. Genet..

[14]  C. V. van Karnebeek,et al.  Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan , 2019, Front. Neurol..

[15]  B. Salamanca-Zarzuela,et al.  Transient phenylketonuria in premature infants. , 2019, Nutrition.

[16]  R. Chen,et al.  Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications , 2019, BMC Pediatrics.

[17]  J. Saudubray,et al.  An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders , 2018, Dialogues in clinical neuroscience.

[18]  I. Rudan,et al.  Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence , 2018, Journal of global health.

[19]  Xuefan Gu,et al.  Next-generation sequencing as a second-tier diagnostic test for newborn screening , 2018, Journal of pediatric endocrinology & metabolism : JPEM.

[20]  Dong Hwan Lee,et al.  Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening , 2018, Molecular genetics and metabolism reports.

[21]  A. Lund,et al.  The impact of consanguinity on the frequency of inborn errors of metabolism , 2018, Molecular genetics and metabolism reports.

[22]  A. Mégarbané,et al.  Cost-benefit analysis: Newborn screening for inborn errors of metabolism in Lebanon , 2015, Journal of medical screening.

[23]  J. Cocho,et al.  Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme. , 2011, Molecular genetics and metabolism.

[24]  T. Siu,et al.  Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong. , 2011, Chinese medical journal.

[25]  A. Saadallah,et al.  Newborn screening: Experiences in the Middle East and North Africa , 2007, Journal of Inherited Metabolic Disease.

[26]  Dong Hwan Lee,et al.  Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report. , 2005, Clinica chimica acta; international journal of clinical chemistry.

[27]  Martin Lindner,et al.  Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. , 2003, Pediatrics.

[28]  D. Marsden,et al.  Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. , 2001, Clinical chemistry.

[29]  B. Pasamanick,et al.  An evaluation of the consistency and predictive value of the 40 week Gesell developmental schedule. , 1960, Psychiatric research reports.

[30]  G. la Marca,et al.  Expanded newborn screening by mass spectrometry: New tests, future perspectives. , 2016, Mass spectrometry reviews.