Rapid, simplified and sensitive method for screening fructose-1,6- diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode

Journal of Chromatography B: Biomedical Sciences and Applications

Volumn 746, Issue 1, 2000, Pages 75-82

  Iga, Misako ^a   Kimura, Masahiko ^a   Ohura, Toshihiro ^b   Kikawa, Yoshiharu ^c   Yamaguchi, Seiji ^a  

^a SHIMANE UNIVERSITY   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF FUKUI   (Japan)

Author keywords

Enzymes; Fructose 1,6 diphosphatase

Indexed keywords

FRUCTOSE BISPHOSPHATASE; GLYCEROL; GLYCEROL KINASE; GLYCEROPHOSPHATE; UREASE;

ADULT; CASE REPORT; CHILD; CONFERENCE PAPER; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GAS CHROMATOGRAPHY; HUMAN; HYPOGLYCEMIA; ION MONITORING; MALE; MASS SPECTROMETRY; PRIORITY JOURNAL; SCREENING; URINE;

ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; FRUCTOSE-BISPHOSPHATASE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; MALE; METABOLISM, INBORN ERRORS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; UREASE;

EID: 0034284348     PISSN: 13872273     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-4347(00)00123-7     Document Type: Conference Paper

References (16)

1. Baker L., Winegrad A.I. Lancet. 7662:1970;13.
2. Berghe G.V. J. Inher. Metab. Dis. 19:1996;470.
3. Zammarchi E., Donati M.A., Ciani F., Rubetti P., Pasquini E. Clin. Pediatr. 34:1995;561.
4. Dremsek P.A., Sacher M., Stögmann W., Gitzelmann R., Bachmann C. Eur. J. Pediatr. 144:1985;203.
5. Krywawych S., Katz G., Lawson A.M., Wyatt S., Brenton D.P. J. Inher. Metab. Dis. 9:1986;388.
6. Burlina A.B., Poletto M., Shin Y.S., Zacchello F. J. Inher. Metab. Dis. 13:1990;263.
7. Nakai A., Shigematsu Y., Liu Y.Y., Kikawa Y., Sudo M. J. Inher. Metab. Dis. 16:1993;408.
8. Matsumoto I., Kuhara T. Mass. Spectrom. Rev. 15:1996;43.
9. Pagliara A.S., Karl I.K., Keating J.P., Brown B.I., Kipnis D.M. J. Clin. Invest. 51:1972;2115.
10. Bührdel P., Böhme H.J., Didt L. Eur. J. Pediatr. 149:1990;574.
11. Ito M., Kuroda Y., Kobashi H., Watanabe T., Takeda E., Toshima K., Miyao M. Clin. Chem. Acta. 141:1984;27.
12. Kikawa Y., Takano T., Nakai A., Shigematsu Y., Sudo M. Clin. Chem. Acta. 215:1993;81.
13. Shin Y.S. Clin. Invest. 71:1993;115.
14. El-Maghrabi M.R., Lange A.J., Jange W., Yamagata K., Stoffel M., Takeda J., Fernald A.A., Beau M.M.L., Bell G.I., Baker L., Pilkis S.J. Genomics. 27:1995;520.
15. Kikawa Y., Inuzuka M., Jin B.Y., Kaji S., Koga J., Yamamoto Y., Fujisawa K., Hata I., Nakai A., Shigematsu Y., Mizunuma H., Taketo A., Mayumi M., Sudo M. Am. J. Hum. Genet. 61:1997;852.
16. Herzog B., Wendel U., Morris A.A.M., Eschrich K. J. Inher. Metab. Dis. 22:1999;132.