Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry.
Publication
, Journal Article
Chace, DH; Millington, DS; Terada, N; Kahler, SG; Roe, CR; Hofman, LF
Published in: Clin Chem
January 1993
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.
Duke Scholars
Published In
Clin Chem
ISSN
0009-9147
Publication Date
January 1993
Volume
39
Issue
1
Start / End Page
66 / 71
Location
England
Related Subject Headings
- Tyrosine
- Reference Values
- Quality Control
- Phenylketonurias
- Phenylalanine
- North Carolina
- Neonatal Screening
- Mass Spectrometry
- Infant, Newborn
- Humans
Citation
APA
Chicago
ICMJE
MLA
NLM
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. Clin Chem, 39(1), 66–71.
Chace, D. H., D. S. Millington, N. Terada, S. G. Kahler, C. R. Roe, and L. F. Hofman. “Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry.” Clin Chem 39, no. 1 (January 1993): 66–71.
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 Jan;39(1):66–71.
Chace, D. H., et al. “Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry.” Clin Chem, vol. 39, no. 1, Jan. 1993, pp. 66–71.
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 Jan;39(1):66–71.
Published In
Clin Chem
ISSN
0009-9147
Publication Date
January 1993
Volume
39
Issue
1
Start / End Page
66 / 71
Location
England
Related Subject Headings
- Tyrosine
- Reference Values
- Quality Control
- Phenylketonurias
- Phenylalanine
- North Carolina
- Neonatal Screening
- Mass Spectrometry
- Infant, Newborn
- Humans