Newborn screening of inherited metabolic disorders by tandem mass spectrometry;Novorozenecký screening dědičných metabolických poruch metodou tandemové hmotnostní spektrometrie

Klinicka Biochemie a Metabolismus

Volumn 13, Issue 2, 2005, Pages 77-80

  Chrastina, Petr ^a   St'astna S ^a   Myskova H ^a   Kosarova M ^a   Elleder, M ^a   Zeman, J ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Inborn errors of metabolism; Newborn screening; Tandem mass spectrometry

Indexed keywords

FATTY ACID;

ARTICLE; CONTROLLED STUDY; FATTY ACID OXIDATION; GENETIC COUNSELING; HUMAN; HYPERPHENYLALANINEMIA; INCIDENCE; MAJOR CLINICAL STUDY; METABOLIC DISORDER; METHYLMALONIC ACIDEMIA; NEWBORN; NEWBORN SCREENING; PHENYLKETONURIA; PRENATAL DIAGNOSIS; SYMPTOM; TANDEM MASS SPECTROMETRY; TYROSINEMIA;

EID: 27644533907     PISSN: 12107921     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

1. Beaudet, A. L.; Sly, W. S., Valle, D. Genetics, biochemistry, and molecular basis of variant human phenotypes. In Scriver, C. R., Sly, W. S., Valle, D. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill 2001, p. 2-128.
2. Jones, P. M., Bennet, M. J. The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry. Clinica Chimica Acta, 2002, 324, p. 121-128.
3. Naylor, E. W., Chace, D. H. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid and amino acid metabolism. J. Child. Neurol., 1999, 14, Suppl. 1, p. 4-8.
4. Pollitt, R. J., Green, A., McCabe, C. J. et al. Neonatal screening for inborn errors of metabolism: cost, yield and outcome. Health Technol. Assessment, 1997, 1.
5. Rashed, M. S. Clinical applications of tandem mass spectrometry: ten years of diagnosis and screening for inherited metabolic diseases. J. Chromatogr. B. Biomed. Sci. Appl., 2001, 758, p. 27-48.
6. Schoen, E. J., Baker, J. C., Colby, C. J., To, T. T. Cost-benefit analysis of universal tandem mass spectrometry for newborn screening. Pediatrics, 2002, 110, p. 781-786.
7. Schulze, A., Lindner, M., Kohlmuller, D. et al. Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications. Pediatrics, 2003, 111, p. 1399-1406.
8. Zytkovicz, T. H., Fitzgerald, E. F., Marsden, D. et al. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin. Chem., 2001, 47, 11, p. 1945-1955.