Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications
Author:
Affiliation:
1. Division of Metabolic and Endocrine Diseases, Department of General Pediatrics, University Children’s Hospital, Heidelberg, Germany
2. Department of General Pediatrics, University Children’s Hospital, Düsseldorf, Germany
Abstract
Publisher
American Academy of Pediatrics (AAP)
Subject
Pediatrics, Perinatology, and Child Health
Link
https://publications.aap.org/pediatrics/article-pdf/111/6/1399/1010902/pe0603001399.pdf
Reference28 articles.
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2. Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Hofman LF. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem.1993;39:66–71
3. Chace DH, Sherwin JE, Hillman SL, Lorey F, Cunningham GC. Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours. Clin Chem.1998;44:2405–2409
4. Schulze A, Kohlmueller D, Mayatepek E. Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates. Clin Chim Acta.1999;283:15–20
5. Chace DH, Hillman SL, Millington DS, Kahler SG, Roe CR, Naylor EW. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem.1995;41:62–68
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