Newborn screening of inborn errors of metabolism by capillary electrophoresis-electrospray ionization-mass spectrometry: A second-tier method with improved specificity and sensitivity

Analytical Chemistry

Volumn 81, Issue 1, 2009, Pages 307-314

  Chalcraft, Kenneth R ^a   Britz McKibbin, Philip ^a  

^a MCMASTER UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; ACYLCARNITINES; BIOLOGICAL SAMPLES; CHEMICAL DERIVATIZATION; DIRECT ANALYSES; DRIED BLOOD SPOTS; EARLY DETECTIONS; ELECTROSPRAY; HIGH RATES; HIGH-THROUGHPUT SCREENINGS; INBORN ERRORS OF METABOLISMS; INTERNAL STANDARDS; IONIZATION MASS SPECTROMETRIES; METHOD VALIDATIONS; NEWBORN SCREENINGS; PRECONCENTRATION; ROBUST STRATEGIES; SAMPLE HANDLINGS;

AMINATION; AMINES; AMINO ACIDS; BIOCHEMISTRY; CAPILLARY ELECTROPHORESIS; DESALINATION; DEUTERIUM; DIAGNOSIS; ELECTROCHEMISTRY; ELECTROPHORESIS; ERRORS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; IONIZATION; MASS SPECTROMETERS; MASS SPECTROMETRY; METABOLISM; MILITARY OPERATIONS; ORGANIC ACIDS; PROGRAM DIAGNOSTICS; SPECTROMETERS; SPECTROMETRY; SPECTRUM ANALYSIS; STEREOCHEMISTRY;

ELECTROSPRAY IONIZATION;

ADULT; AMINO ACIDS; CALIBRATION; CARNITINE; ELECTROPHORESIS, CAPILLARY; HUMANS; INFANT, NEWBORN; MASS SCREENING; METABOLISM, INBORN ERRORS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 58149458883     PISSN: 00032700     EISSN: None     Source Type: Journal    
DOI: 10.1021/ac8020455     Document Type: Article

References (42)

1. Guthrie, R.; Susi, A. Pediatrics 1963, 32, 338-343.
2. Wilcken, B.; Wiley, V.; Hammond, J.; Carpenter, K. N. Engl. J. Med. 2003, 348, 2304-2312.
3. Cipriano, L. E.; Rupar, A.; Zaric, G. S. Value In Health 2007, 10, 83-97.
4. Wilcken, B. J. Inherited Metab. Dis. 2007, 30, 129-133.
5. Garg, U.; Dasouki, M. Clin. Biochem. 2006, 39, 315-332.
6. Schulze, A.; Lindner, M.; Kohlmuller, D.; Olgemoller, K.; Mayatepek, E.; Hoffmann, G. F. Pediatrics 2003, 111, 1399-1406.
7. Chace, D. H.; Hillman, S. L.; Hove, J. L. K. V.; Naylor, D. W. Clin. Chem. 1997, 43, 2106-2113.
8. Rashed, M. S.; Bucknall, M. P.; Little, D.; Awad, A.; Jacob, M.; Alamoudi, M.; Alwattar, M.; Ozand, O. T. Clin. Chem. 1997, 43, 1129-1141.
9. Chace, D. H.; Hillman, S. L.; Millington, D. S.; Kahler, S. G.; Roe, C. R.; Naylor, E. W. Clin. Chem. 1995, 41, 62-68.
10. Chace, D. H.; Millington, D. S.; Terada, N.; Kahler, S. G.; Roe, C. R.; Hofman, L. F. Clin. Chem. 1993, 39, 66-71.
11. Millington, D. S.; Kodo, N.; Norwood, D. L.; Roe, C. R. J. Inherited Metab. Dis. 1990, 13, 321-324.
12. Chace, D. H.; Kalas, T. A.; Naylor, E. W. Clin. Chem. 2003, 49, 1797-1817.
13. Frazier, D. M.; Millington, D. S.; McCandless, E. E.; Koeberl, D. D.; Weavil, S. D.; Chaing, S. H.; Muenzer, J. J. Inherited Metab. Dis. 2006, 29, 76-85.
14. Trinh, M.-U.; Blake, J.; Harrison, J. R.; Gerace, R.; Ranieri, E.; Fletcher, J. M.; Johnson, D. W. Clin. Chem. 2003, 49, 681-684.
15. Haberle, J.; Gorg, B.; Toutain, A.; Rutsch, F.; Benoist, J.-F.; Gelot, A.; Suc, A.-L.; Koch, H. G.; Schliess, F.; Haussinger, D. J. Inherited Metab. Dis. 2006, 29, 352-358.
16. Piraud, M.; Vianey-Saban, C.; Bourdin, C.; Acquaviva-Bourdain, C.; Boyer, S.; Elfakir, C.; Bouchu, D. Rapid Commun. Mass Spectrom. 2005, 19, 3287-3297.
17. Johnson, D. W. Rapid Commun. Mass Spectrom. 2001, 15, 2198-2205.
18. Minkler, P. E.; Ingalls, S. T.; Hoppel, C. L. Anal. Chem. 2005, 77, 1448-1457.
19. Oglesbee, D.; Sanders, K. A.; Lacey, J. M.; Magera, M. J.; Casetta, B.; Strauss, K. A.; Totorelli, S.; Rinaldo, P.; Matern, D. Clin. Chem. 2008, 54, 542-549.
20. Shigematsu, Y.; Hata, I.; Kikawa, Y.; Mayumi, M.; Tanaka, Y.; Sudo, M.; Kado, N. J. Chromatogr. B 1999, 731, 97-103.
21. Zoppa, M.; Gallo, L.; Zacchello, F.; Giordano, G. J. Chromatogr. B 2006, 831, 267-273.
22. Ghoshla, A. K.; Guo, T.; Soukhova, N.; Soldin, S. J. Clin. Chim. Acta 2005, 358, 104-112.
23. Qu, J.; Wang, Y.; Luo, G.; Wu, Z.; Yang, C. Anal. Chem. 2002, 74, 2034-2040.
24. Jauregui, O.; Sierra, A. Y.; Carrasco, P.; Gratacos, E.; Hegardt, F. G.; Casals, N. Anal. Chim. Acta 2007, 599, 1-6.
25. Gaspar, A.; Englmann, M.; Fekete, A.; Harir, M.; Schmitt-Kopplin, P. Electrophoresis 2008, 29, 66-79.
26. Monton, M. R. N.; Soga, T. J. Chromatogr. A 2007, 1168, 237-246.
27. Servais, A. C.; Crommen, J.; Fillet, M. Electrophoresis 2006, 27, 2616-2629.
28. Manisali, I.; Chen, D. D. Y.; Schneider, B. B. Trends Anal. Chem. 2006, 25, 243-256.
29. Williams, B. J.; Cameron, C. J.; Workman, R.; Broeckling, C. D.; Sumner, L. W.; Smith, J. T. Electrophoresis 2007, 28, 1371-1379.
30. Lee, R.; Ptolemy, A. S.; Niewczas, L.; Britz-McKibbin, P. Anal. Chem. 2007, 79, 403-415.
31. Šenk, P.; Kozák, L.; Foret, F. Electrophoresis 2004, 25, 1447-1456.
32. Friedecký, D.; Tomková, J.; Maier, V.; Janoš táková, A.; Procházka, M.; Adam, T. Electrophoresis 2007, 28, 373-380.
33. Boulat, O.; McLaren, D. G.; Arriaga, E. A.; Chen, D. D. Y. J. Chromatogr. A 2001, 754, 217-228.
34. Garcia, A.; Barbas, C.; Aguilar, R.; Castro, M. Clin. Chem. 1998, 44, 1905-1911.
35. Heinig, K.; Henion, J. J. Chromatogr. B 1999, 735, 171-188.
36. Elgstoen, K. B. P.; Zhao, J. Y.; Anacleto, H. F.; Jellum, E. J. Chromatogr. A 2001, 914, 265-275.
37. Ho, J. K.; Duclos, R. I.; Hamilton, J. A. J. Lipid Res. 2002, 43, 1429-1439.
38. Schadewaldt, P.; Bodner-Leidecker, A.; Hammen, H.-W.; Wendel, U. Clin. Chem. 1999, 45, 1734-1740.
39. Nagy, K.; Takáts, Z.; Pollreisz, F.; Szabó, T.; Vékey, K. Rapid Commun. Mass Spectrom. 2003, 17, 983-990.
40. Lindner, M.; Ho, S.; Fang-Hoffmann, J.; Hoffmann, G. F.; Kölker, S. J. Inherited Metab. Dis. 2006, 29, 378-382.
41. Soga, T.; Kakazu, Y.; Robert, M.; Tomita, M.; Nishioka, N. Electrophoresis 2004, 25, 1964-1972.
42. Wirkoff, W. R.; Gangoiti, K. A.; Barshop, B. A.; Siuzdak, G. Clin. Chem. 2007, 53, 2169-2176.