Surprising causes of C5-carnitine false positive results in newborn screening
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference11 articles.
1. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism;Chace;Annu. Rev. Genomics Hum. Genet.,2002
2. Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme;Abdenur;J. Inherit. Metab. Dis.,1998
3. Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo clinic experience (2004–2007);Matern;J. Inherit. Metab. Dis.,2007
4. UPLC–MS/MS analysis of c5-acylcarnitines in dried blood spots;Janzen;Clin. Chim. Acta,2013
5. Rapid determination of c4-acylcarnitine and c5-acylcarnitine isomers in plasma and dried blood spots by UPLC–MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis;Forni;Mol. Genet. Metab.,2010
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1. Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS;International Journal of Neonatal Screening;2024-03-20
2. Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK;International Journal of Neonatal Screening;2024-03-13
3. Research on the Clinical Practical Use of Pivoxil-Conjugated Antibodies and the Risk of Carnitine Deficiency Using Real-World Data;Children;2024-01-24
4. Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia’s newborn screening programme;Clinical Chemistry and Laboratory Medicine (CCLM);2023-10-06
5. Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany;JIMD Reports;2022-10-28
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