The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs

Rapid Communications in Mass Spectrometry

Volumn 22, Issue 6, 2008, Pages 812-818

  La Marca, Giancarlo ^a   Malvagia, Sabrina ^a   Pasquini, Elisabetta ^a   Innocenti, Marzia ^b   Fernandez, Maira Rebollido ^c   Donati, Maria Alice ^c   Zammarchi, Enrico ^b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c Instituto de Salud Carlos III   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DIAGNOSIS; LIQUID CHROMATOGRAPHY; MASS SPECTROMETRY; NITROGEN COMPOUNDS;

ACYLCARNITINE; AMINO-ACIDS; FALSE NEGATIVES; INTERNAL STANDARDS; LIQUID CHROMATOGRAPHY-TANDEM MASS SPECTROMETRY; LIQUID CHROMATOGRAPHY/TANDEM MASS SPECTROMETRY; NEWBORN SCREENING; SCREENING METHODS; SCREENING PROGRAMS; TUSCANY;

AMINO ACIDS;

EID: 41149109463     PISSN: 09514198     EISSN: 10970231     Source Type: Journal    
DOI: 10.1002/rcm.3428     Document Type: Article

References (28)

1. Millington DS, Kodo N, Norwood DL, Roe CR. J. Inherit. Metab. Dis. 1990; 13: 321.
2. Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Hofman LF. Clin. Chem. 1993; 39: 66.
3. Gelb MH, Turecek F, Scott CR, Chamoles NA. J. Inherit. Metab. Dis. 2006; 29: 397.
4. Wang D, Wood T, Sadilek M, Scott CR, Turecek F, Gelb MH. Clin. Chem. 2007; 53: 137.
5. Sorenson JR, Levy HL, Mangione TW, Sepe SJ. Pediatrics 1984; 73: 183.
6. Fyro K. Acta Paediatr. Scand. 1988; 77: 232.
7. Baroni MA, Anderson YE, Mischler E. Pediatr. Nurs. 1997; 23: 143.
8. Kwon C, Farrell PM. Arch. Pediatr. Adolesc. Med. 2000; 154: 714.
9. Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF. Pediatrics 2003; 111: 1399.
10. Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB, Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S, Seashore M, Shih VE, Levy HL. J. Am. Med. Assn. 2003; 290: 2564.
11. Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. Pediatrics 2006; 117: 1915.
12. Tarini BA, Christakis DA, Welch HG. Pediatrics 2006; 118: 448.
13. Naylor EW, Chace DH. J. Child Neurol. 1999; 14(S1): S4.
14. Wiley V, Carpenter K, Wilcken B. Acta Paediatr. 1999; 88(S): 48.
15. Rashed MS. J. Chromatogr. B Biomed. Sci. Appl. 2001; 758: 27.
16. Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, Strauss AW, Comeau AM, Eaton RB, Grady GF. Clin. Chem. 2001; 47: 1945.
17. Rinaldo P, Tortorelli S, Matern D. Curr. Opin. Pediatr. 2004; 16: 427.
18. la Marca G, Malvagia S, Pasquini E, Innocenti M, Donati MA, Zammarchi E. Clin. Chem. 2007; 53: 1364.
19. Frazier DM, Millington DS, McCandless SE, Koeberl DD, Weavil SD, Chaing SH, Muenzer J. J Inherit. Metab. Dis. 2006; 29: 76.
20. Mitchell G, Grompe M, Lambert M, Tanguay RM. Hypertyrosinemia. In The Metabolic and Molecular Bases of Inherited Disease, vol. II, Scriver C, Beaudet A, Sly W, Valle D (eds). McGraw-Hill, Inc.: New York, 2001; 1777-1805.
21. Denne SC, Karn CA, Ahlrichs JA, Dorotheo AR, Wang J, Liechty EA. J. Clin. Invest. 1996; 97: 746.
22. Wilcken B, Wiley V, Hammond J, Carpenter K. N. Engl. J. Med. 2003; 348: 2304.
23. Chace DH, Kalas TA, Naylor EW. Clin. Chem. 2003; 49: 1797.
24. Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D. Mol. Genet. Metab. 2006; 88: 16.
25. Al-Dirbashi OY, Rashed MS, Brink HJ, Jakobs C, Filimban N, Al-Ahaidib LY, Jacob M, Al-Sayed MM, Al-Hassnan Z, Faqeih E. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 2006; 831: 274.
26. Allard P, Grenier A, Korson MS, Zytkovicz TH. Clin. Biochem. 2004; 37: 1010.
27. Sander J, Janzen N, Peter M, Sander S, Steuerwald U, Holtkamp U, Schwahn B, Mayatepek E, Trefz FK, Das AM. Clin. Chem. 2006; 52: 482.
28. la Marca G, Malvagia S, Donati MA, Morrone A, Pasquini E, Zammarchi E. Rapid Commun. Mass Spectrom. 2003; 17: 2688.