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Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry
Abstract
A new method for quantifying specific amino acids in small volumes of plasma and whole blood has been developed. Based on isotope-dilution tandem mass spectrometry, the method takes only a few minutes to perform and requires minimal sample preparation. The accurate assay of both phenylalanine and tyrosine in dried blood spots used for neonatal screening for phenylketonuria in North Carolina successfully differentiated infants who had been classified as normal, affected, and falsely positive by current fluorometric methods. Because the mass-spectrometric method also recognizes other aminoacidemias simultaneously and is capable of automation, it represents a useful development toward a broad-spectrum neonatal screening method.
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Citations
Cited by
Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
Chace, D. H., Kalas, T. A., & Naylor, E. W. (2003) · Clinical Chemistry · doi:10.1373/clinchem.2003.022178 · Cited by 621
Self-citationDried blood spot sampling in combination with LC‐MS/MS for quantitative analysis of small molecules
Li, W., & Tse, F. L. S. (2010) · Biomedical Chromatography · doi:10.1002/bmc.1367 · Cited by 599
Metabolic Fingerprinting As A Diagnostic Tool
Ellis, D. I., Dunn, W. B., Griffin, J. L., Allwood, J. W., & Goodacre, R. (2007) · Pharmacogenomics · doi:10.2217/14622416.8.9.1243 · Cited by 396
Rashed, M. S., Ozand, P. T., Bucknall, M. P., & Little, D. (1995) · Pediatric Research · doi:10.1203/00006450-199509000-00009 · Cited by 342
Luo, T., Zhang, Y., Wang, C., Wang, X., Zhou, J., Shen, M., Zhao, Y., Fu, Z., & Jin, Y. (2019) · Environmental Pollution · doi:10.1016/j.envpol.2019.113122 · Cited by 316
Metadata
- Authors
- Chace, D. H., Millington, D. S., Terada, N., Kahler, S. G., Roe, C. R., & Hofman, L. F.
- Venue
- Clinical Chemistry
- Publisher
- Oxford University Press (OUP)
- Published
- 1993-01-01
- Volume
- 39
- Issue
- 1
- Pages
- 66-71
- ISSN
- 0009-9147 (ISSN-L)
- 1530-8561
- OpenAlex
- W2153495310
- Cited by
- 374
- References
- 0
- FWCI
- 1.57
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. https://app.cochat.ai/papers/10.1093/clinchem/39.1.66
- The paper
- Chace, D. H., Millington, D. S., Terada, N., Kahler, S. G., Roe, C. R., & Hofman, L. F. (1993). Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clinical Chemistry. https://doi.org/10.1093/clinchem/39.1.66
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