Modifications in electrospray tandem mass spectrometry for a neonatal-screening pilot study in Japan
Author:
Publisher
Elsevier BV
Subject
General Chemistry
Reference21 articles.
1. Newborn screening by tandem mass spectrometry (MS-MS)
2. Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles
3. Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry
4. Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry
5. Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry
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1. Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan;International Journal of Neonatal Screening;2024-02-20
2. The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening;Molecular Genetics and Metabolism;2022-05
3. Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation;International Journal of Neonatal Screening;2021-07-07
4. Metabolic Autopsy and Molecular Autopsy in Sudden Unexpected Death in Infancy;Forensic Medicine and Human Cell Research;2018-11-04
5. Elevation of pivaloylcarnitine by sivelestat sodium in two children;Molecular Genetics and Metabolism;2015-11
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