Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening
Author:
Publisher
Wiley
Subject
Spectroscopy
Reference13 articles.
1. Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
2. Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
3. Recent developments and new applications of tandem mass spectrometry in newborn screening
4. Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening
5. Rapid diagnosis of medium chain Acyl Co-A dehydrogenase(MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry
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1. Biochemical Phenotypes of Questionable Clinical Significance;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022
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3. An Unusual Peak in a Common Clinical Presentation;Clinical Chemistry;2021-04-28
4. Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2021-02
5. Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening;Journal of Inherited Metabolic Disease;2019-01
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