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Volumn 46, Issue 4, 2000, Pages 445-452

Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYMETHYLURACIL; ADENOSINE; GUANOSINE; INOSINE; OROTIC ACID; THYMINE; URACIL; XANTHINE;

EID: 0034075405     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/46.4.445     Document Type: Article
Times cited : (99)

References (16)
  • 1
    • 0030917749 scopus 로고    scopus 로고
    • When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications
    • 1. Simmonds HA, Duley JA, Fairbanks LD, McBride MB. When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications. J Inherit Metab Dis 1997;20:214-26.
    • (1997) J Inherit Metab Dis , vol.20 , pp. 214-226
    • Simmonds, H.A.1    Duley, J.A.2    Fairbanks, L.D.3    McBride, M.B.4
  • 2
    • 0000077098 scopus 로고
    • Screening for inborn errors of purine and pyrimidine metabolism by bi-dimensional TLC and HPLC
    • Zweig G, Sherma J, eds. Nucleic acids and related compounds. Boca Raton, FL: CRC Press
    • 2. van Gennip AH. Screening for inborn errors of purine and pyrimidine metabolism by bi-dimensional TLC and HPLC. In: Zweig G, Sherma J, eds. CRC handbook of chromatography, Vol. I, Part A. Nucleic acids and related compounds. Boca Raton, FL: CRC Press, 1990:221-45.
    • (1990) CRC Handbook of Chromatography , vol.1 , Issue.PART A , pp. 221-245
    • Van Gennip, A.H.1
  • 5
    • 0031007314 scopus 로고    scopus 로고
    • Inherited defects of purine and pyrimidine metabolism: Laboratory methods for diagnosis
    • 5. Duran M, Dorland L, Meuleman EEE, Allers P, Berger R. Inherited defects of purine and pyrimidine metabolism: Laboratory methods for diagnosis. J Inherit Metab Dis 1997;20:227-36.
    • (1997) J Inherit Metab Dis , vol.20 , pp. 227-236
    • Duran, M.1    Dorland, L.2    Meuleman, E.E.E.3    Allers, P.4    Berger, R.5
  • 6
    • 0028828967 scopus 로고
    • Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography
    • 6. Sumi S, Kidouchi K, Ohba S, Wada Y. Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography. J Chromatogr B 1995; 672:233-9.
    • (1995) J Chromatogr B , vol.672 , pp. 233-239
    • Sumi, S.1    Kidouchi, K.2    Ohba, S.3    Wada, Y.4
  • 7
    • 0029117065 scopus 로고
    • Automated determination of hypoxanthine and xanthine in urine by high-performance liquid chromatography with column switching
    • 7. Sumi S, Kidouchi K, Ohba S, Wada Y. Automated determination of hypoxanthine and xanthine in urine by high-performance liquid chromatography with column switching. J Chromatogr B 1995; 670:376-8.
    • (1995) J Chromatogr B , vol.670 , pp. 376-378
    • Sumi, S.1    Kidouchi, K.2    Ohba, S.3    Wada, Y.4
  • 8
    • 0021645906 scopus 로고
    • An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids
    • 8. Jaeken J, Van den Berghe G. An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet 1984;2:1058-61.
    • (1984) Lancet , vol.2 , pp. 1058-1061
    • Jaeken, J.1    Van Den Berghe, G.2
  • 10
    • 0030751763 scopus 로고    scopus 로고
    • Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles
    • 10. Rashed MS, Bucknall MP, Little D, Awad A, Jacob M, Alamoudi M, et al. Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin Chem 1997;43:1129-41.
    • (1997) Clin Chem , vol.43 , pp. 1129-1141
    • Rashed, M.S.1    Bucknall, M.P.2    Little, D.3    Awad, A.4    Jacob, M.5    Alamoudi, M.6
  • 11
    • 0031649509 scopus 로고    scopus 로고
    • Newborn screening by tandem mass spectrometry: A new era
    • 11. Levy HL. Newborn screening by tandem mass spectrometry: a new era [Editorial]. Clin Chem 1998;44:2401-2.
    • (1998) Clin Chem , vol.44 , pp. 2401-2402
    • Levy, H.L.1
  • 12
    • 0033001744 scopus 로고    scopus 로고
    • Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects
    • 12. Vreken P, Van Lint AEM, Bootsma AH, Overmars H, Wanders RJA, van Gennip AH. Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects. J Inherit Metab Dis 1999;22:302-6.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 302-306
    • Vreken, P.1    Van Lint, A.E.M.2    Bootsma, A.H.3    Overmars, H.4    Wanders, R.J.A.5    Van Gennip, A.H.6
  • 13
    • 0028937251 scopus 로고
    • Quantification of orotic acid in dried filter-paper urine samples by stable isotope dilution
    • 13. McCann MT, Thompson MM, Gueron IC, Tuchman M. Quantification of orotic acid in dried filter-paper urine samples by stable isotope dilution. Clin Chem 1995;41:739-43.
    • (1995) Clin Chem , vol.41 , pp. 739-743
    • McCann, M.T.1    Thompson, M.M.2    Gueron, I.C.3    Tuchman, M.4
  • 14
    • 0031803841 scopus 로고    scopus 로고
    • Simultaneous determination of oxalate, glycolate, citrate and sulfate from dried urine filter paper spots in a pediatric population
    • 14. Blau N, latasovic A, Lukasiewicz-Wedlechowicz A, Heizmann CW, Leumann E. Simultaneous determination of oxalate, glycolate, citrate and sulfate from dried urine filter paper spots in a pediatric population [Technical Brief]. Clin Chem 1998;44: 1554-6.
    • (1998) Clin Chem , vol.44 , pp. 1554-1556
    • Blau, N.1    Latasovic, A.2    Lukasiewicz-Wedlechowicz, A.3    Heizmann, C.W.4    Leumann, E.5
  • 15
    • 0032736153 scopus 로고    scopus 로고
    • Capillary electrophoresis for detection of inherited disorders of purine and pyrimidine metabolism
    • 15. Adam T, Friedecky D, Fairbanks LD, Sevcik J, Bartak P. Capillary electrophoresis for detection of inherited disorders of purine and pyrimidine metabolism. Clin Chem 1999;45:2086-93.
    • (1999) Clin Chem , vol.45 , pp. 2086-2093
    • Adam, T.1    Friedecky, D.2    Fairbanks, L.D.3    Sevcik, J.4    Bartak, P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.