Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: Difficulties in practical discrimination

Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences

Volumn 792, Issue 1, 2003, Pages 63-72

  Shigematsu, Yosuke ^a   Hirano, Satoko ^a   Hata, Ikue ^a   Tanaka, Yukie ^a   Sudo, Masakatsu ^a   Tajima, Tsuyoshi ^b   Sakura, Nobuo ^b   Yamaguchi, Seiji ^c   Takayanagi, Masaki ^d  

^a UNIVERSITY OF FUKUI   (Japan)

^b HIROSHIMA UNIV SCHOOL OF MEDICINE   (Japan)

^c SHIMANE UNIVERSITY   (Japan)

^d CHIBA CHILDREN'S HOSPITAL   (Japan)

Author keywords

Fatty acid oxidation disorders; Fatty acids

Indexed keywords

BLOOD; ENZYMES; FATTY ACIDS; MASS SPECTROMETRY; OXIDATION;

ENZYME ASSAYS;

BIOMEDICAL ENGINEERING;

ACYL COENZYME A DEHYDROGENASE; CARNITINE PALMITOYLTRANSFERASE;

ADOLESCENT; ADULT; CLINICAL STUDY; CONFERENCE PAPER; CONTROLLED STUDY; ENZYME ASSAY; ENZYME DEFICIENCY; FATTY ACID OXIDATION; HUMAN; HYPOGLYCEMIA; INFANT; MAJOR CLINICAL STUDY; MEDICAL ASSESSMENT; PRIORITY JOURNAL; SCREENING TEST; TANDEM MASS SPECTROMETRY;

EID: 0038121926     PISSN: 15700232     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1570-0232(03)00281-2     Document Type: Conference Paper

References (31)

1. Millington D.S., Kodo N., Norwood D.L., Roe C.R. J. Inherit. Metab. Dis. 13:1990;321.
2. Millington D.S., Kodo N., Terada N., Roe C.R., Chace D.H. Int. J. Mass Spectrom. Ion. Proc. 111:1991;211.
3. Rashed M.S., Ozand P.T., Bucknall M.P., Little D. Pediatr. Res. 38:1995;324.
4. Rashed M.S., Bucknall M.P., Little D., Awad A., Jacob M., AlAmoudi M., AlWattr M., Ozand P.T. Clin. Chem. 43:1997;1129.
5. Naylor E.W., Chace D.H. J. Child Neurol. 14:(Suppl. 1):1999;54.
6. Zytkovicz T.H., Fitzgerald E.F., Marsden D., Larson C.A., Shin V.E., Johnson D.M., Strauss A.W., Comeau A.M., Eaton R.B., Grady G.F. Clin. Chem. 47:2001;1945.
7. Shigematsu Y., Hirano S., Hata I., Tanaka Y., Sudo M., Sakura N., Tajima T., Yamaguchi S. J. Chromatogr. B. 776:2002;39.
8. Rashed M.S. J. Chromatogr. B. 758:2001;27.
9. Vianey-Saban C., Guffon N., Delolne F., Guibaud P., Mathieu M., Divry P. J. Inherit. Metab. Dis. 20:1997;411.
10. Vreken P., van Lint A.E.M., Bootsma A.H., Overmars H., Wanders R.J.A., van Gennip A.H. Adv. Exp. Med. Biol. 466:1999;327.
11. Fingerhut R., Roschinger W., Muntau A.C., Dame T., Kreischer J., Arnecke R., Superti-Furga A., Troxler H., Liebl B., Olgemoller B., Roscher A.A. Clin. Chem. 47:2001;1763.
12. Gempel K., Kiechl S., Hofmann S., Lochmuller H., Liechl-Kohlendorfer U., Willeit J., Sperl W., Rettinger A., Bieger I., Pongratz D., Gerbitz K.D., Bauer M.F. J. Inherit. Metab. Dis. 25:2002;17.
13. Shigematsu Y., Hata I., Nakai A., Kikawa Y., Sudo M., Tanaka Y., Yamaguchi S., Jakobs C. Pediatr. Res. 39:1996;680.
14. Takusa Y., Fukao T., Kimura M., Uchiyama A., Abo W., Tsuboi Y., Hirose S., Fujioka H., Kondo N., Yamaguchi S. Mol. Genet. Metab. 75:2002;227.
15. Oizumi J., Hayakawa K. J. Chromatogr. 529:1990;55.
16. Demaugre F., Bonnefont J.P., Colonna M., Cepanec C., Leroux J.P., Saudubray J.M. J. Clin. Invest. 87:1991;859.
17. Yamamoto S., Abe H., Kohgo T., Ogawa A., Ohtak A., Hayashibe H., Sakuraba H., Suzuki Y., Aramaki S., Takayanagi M., Hasegawa S., Niimi H. Hum. Genet. 98:1996;116.
18. Shigematsu Y., Hata I., Kikawa Y., Mayumi M., Tanaka Y., Sudo M., Kado N. J. Chromatogr. B. 731:1999;97.
19. Sim K.G., Hammond J., Wilcken B. Clin. Chim. Acta. 323:2002;37.
20. Millington D.S., Terada N., Chace D.H., Chen Y., Ding J., Kodo N., Roe C.R. New Developments in Fatty Acid Oxidation. 1992;Wiley-Liss, New York. p. 339.
21. Ozand P.T., Rashed M., Millington D.S., Sakati N., Hazzaa S., Rahbeeni Z., Odaib A.A., Youssef N., Mazrou A., Gascon G.C., Brismar J. Brain Dev. 16:(Suppl):1994;12.
22. Hahn S., Lee E., Jung J., Hong C., Yoon H., Rinaldo P., Sim H., Gibson B., Strauss A.W. J. Pediatr. 135:1999;250.
23. Al-Essa M.A., Rashed M.S., Wanders R.J.A. J. Inherit. Metab. Dis. 22:1999;271.
24. Simonsen H., Jensen U.G. Acta Pediatr. Suppl. 432:1999;52.
25. Vreken P., van Lint A.E.M., Bootsma A.H., Overmars H., Wanders R.J.A., van Gennip A.H. J. Inherit. Metab. Dis. 22:1999;302.
26. Chace D.H., DiPerna J.C., Mitchell B.L., Sgrol B., Hofman L.F., Naylor E.W. Clin. Chem. 47:2001;1166.
27. Van Hove J.L.K., Zhang W., Kahler S.G., Roe C.R., Chen Y., Terada N., Chace D.H., Kimberly lafolla A., Ding J., Millington D.S. Am. J. Hum. Genet. 52:1993;958.
28. Gempel K., von Praun C., Baumkotter J., Lehnert W., Ensenauer R., Gerbitz K., Bauer M.F. Eur. J. Pediatr. 160:2001;548.
29. Stanley C.A., Hale D.E., Berry G.T., DeLeeuw S., Boxer J., Bonnefont J.-P. New Engl. J. Med. 327:1992;19.
30. Marsdeu D., Nyhan W.L., Barshop B.A. Eur. J. Pediatr. 160:2001;599.
31. Al-Essa M.A., Rashed M.S., Bakheet S.M., Patay Z.J., Ozand P.T. J. Perinatol. 2:2000;120.