메뉴 건너뛰기




Volumn 25, Issue 2, 2006, Pages 64-74

Analysis of amino acids, acylcarnitines, acylglycines and organic acids in dried filter paper urine samples by Tandem Mass Spectrometry;Aplicación de la espectrometría de masas en Tándem al análisis de aminoácidos, acilcarnitinas, acilglicinas y ácidos orgánicos en muestras de orina en papel

Author keywords

Dried urine samples; Inborn errors of metabolism; Newborn screening; Tandem Mass Spectrometry

Indexed keywords

ACYLCARNITINE; CARBOXYLIC ACID; GLYCINE DERIVATIVE; N ACYLGLYCINE; UNCLASSIFIED DRUG;

EID: 34347386729     PISSN: 11392436     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (13)

References (29)
  • 1
    • 0001373172 scopus 로고    scopus 로고
    • Serving the family from birth to the medical home: Newborn screening: a blueprint for the future - a call for a medical agenda on state newborn screening programs
    • AAP Newborn Screening Task Force
    • AAP Newborn Screening Task Force. Serving the family from birth to the medical home: Newborn screening: a blueprint for the future - a call for a medical agenda on state newborn screening programs. Pediatrics 2000; 106: 386-427.
    • (2000) Pediatrics , vol.106 , pp. 386-427
  • 2
    • 75449123150 scopus 로고
    • A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
    • Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963; 32: 318-43.
    • (1963) Pediatrics , vol.32 , pp. 318-343
    • Guthrie, R.1    Susi, A.2
  • 3
    • 0019174319 scopus 로고
    • Gas-Chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias
    • Tanaka K, West-Dull A, Hine D, Lynn T, Lowe T. Gas-Chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias. Clin Chem 1980; 26(13): 1847-53.
    • (1980) Clin Chem , vol.26 , Issue.13 , pp. 1847-1853
    • Tanaka, K.1    West-Dull, A.2    Hine, D.3    Lynn, T.4    Lowe, T.5
  • 4
    • 0035000630 scopus 로고    scopus 로고
    • Applications of mass spectrometry in the study of inborn errors of metabolism
    • Clayton PT. Applications of mass spectrometry in the study of inborn errors of metabolism. J Inherit Metab Dis 2001; 24: 139-50.
    • (2001) J Inherit Metab Dis , vol.24 , pp. 139-150
    • Clayton, P.T.1
  • 5
    • 0036774376 scopus 로고    scopus 로고
    • The changing face of newborn screening: Diagnosis of inborn errors of metabolism by tandem mass spectrometry
    • Jones PM, Bennett JM. The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry. Clin Chim Acta 2002; 324: 121-8.
    • (2002) Clin Chim Acta , vol.324 , pp. 121-128
    • Jones, P.M.1    Bennett, J.M.2
  • 6
    • 0035811979 scopus 로고    scopus 로고
    • Screening for inborn errors of metabolism using gas chromatography-mass spectrometry
    • Xu K, Wang L, Cai H, Zhang T, Zhang C, Matsumoto I. Screening for inborn errors of metabolism using gas chromatography-mass spectrometry. J Chromatogr B Biomed Sci Appl 2001; 758 (1): 75-80.
    • (2001) J Chromatogr B Biomed Sci Appl , vol.758 , Issue.1 , pp. 75-80
    • Xu, K.1    Wang, L.2    Cai, H.3    Zhang, T.4    Zhang, C.5    Matsumoto, I.6
  • 8
    • 0033047224 scopus 로고    scopus 로고
    • Tandem mass spectrometry- the potencial
    • Bartlett K, Pourfarzam. Tandem mass spectrometry- the potencial. J Inher Metab Dis 1999; 22: 568-71.
    • (1999) J Inher Metab Dis , vol.22 , pp. 568-571
    • Bartlett, K.1    Pourfarzam2
  • 9
    • 0025129387 scopus 로고
    • Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
    • Millington DS, Kodo N, Norwood DL, Roe CR. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 1990;13:321-4.
    • (1990) J Inherit Metab Dis , vol.13 , pp. 321-324
    • Millington, D.S.1    Kodo, N.2    Norwood, D.L.3    Roe, C.R.4
  • 10
    • 0027395318 scopus 로고
    • Rapid diagnosis of phenylketonuria by quantitative analysis of phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry
    • Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Hoffman LF. Rapid diagnosis of phenylketonuria by quantitative analysis of phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem 1993; 39: 66-71.
    • (1993) Clin Chem , vol.39 , pp. 66-71
    • Chace, D.H.1    Millington, D.S.2    Terada, N.3    Kahler, S.G.4    Roe, C.R.5    Hoffman, L.F.6
  • 11
    • 0029121111 scopus 로고
    • Diagnosis of inborn errors of metabolism from blood spots by acycarnitines and aminoacids profiling using automates electrospray tandem mass spectrometry
    • Rashed MS, Ozad PT, Bucknall MP, Little D. Diagnosis of inborn errors of metabolism from blood spots by acycarnitines and aminoacids profiling using automates electrospray tandem mass spectrometry. Clin Chem 1995; 38: 324-31.
    • (1995) Clin Chem , vol.38 , pp. 324-331
    • Rashed, M.S.1    Ozad, P.T.2    Bucknall, M.P.3    Little, D.4
  • 12
    • 0033430257 scopus 로고    scopus 로고
    • Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: A model for clinical mass spectrometry in the next millennium
    • Chace DH, DiPerna JC, Naylor EW. Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium. Acta Paediatr Suppl 1999; 432: 45-7
    • (1999) Acta Paediatr Suppl , vol.432 , pp. 45-47
    • Chace, D.H.1    DiPerna, J.C.2    Naylor, E.W.3
  • 13
    • 0242362630 scopus 로고    scopus 로고
    • Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns
    • Chace DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem 2003; 49: 1797-817.
    • (2003) Clin Chem , vol.49 , pp. 1797-1817
    • Chace, D.H.1    Kalas, T.A.2    Naylor, E.W.3
  • 14
    • 0034775820 scopus 로고    scopus 로고
    • Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Disorders in Newborn Dried Blood Spots: A Two-Year Summary from the New England Newborn Screening Program
    • Zytkovicz HT, Fitzgerald FE, Marsden D, Larson AC, Shih EV, Johnson MD, et al. Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Disorders in Newborn Dried Blood Spots: A Two-Year Summary from the New England Newborn Screening Program. Clin Chem 2001; 47:1945-55.
    • (2001) Clin Chem , vol.47 , pp. 1945-1955
    • Zytkovicz, H.T.1    Fitzgerald, F.E.2    Marsden, D.3    Larson, A.C.4    Shih, E.V.5    Johnson, M.D.6
  • 15
    • 14844292112 scopus 로고    scopus 로고
    • A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing
    • Chace DH, Kalas TA. A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. Clin Biochem 2005; 38: 296-309.
    • (2005) Clin Biochem , vol.38 , pp. 296-309
    • Chace, D.H.1    Kalas, T.A.2
  • 16
    • 0011240438 scopus 로고    scopus 로고
    • Using Tandem Mass Spectrometry for Metabolic Disease Screening Among Newborns
    • Centers for Disease and Prevention CDC, April
    • Centers for Disease and Prevention (CDC). Using Tandem Mass Spectrometry for Metabolic Disease Screening Among Newborns. MMWR April 2001; 50: 1-34.
    • (2001) MMWR , vol.50 , pp. 1-34
  • 17
    • 0025935587 scopus 로고
    • Screening newborns for multiple organic acidurias in dried filter paper urine samples: Method development
    • Tuchman M, McCann MT, Johnson PE, Lemieux B. Screening newborns for multiple organic acidurias in dried filter paper urine samples: method development. Pediatr Res 1991; 30 (4): 315-21.
    • (1991) Pediatr Res , vol.30 , Issue.4 , pp. 315-321
    • Tuchman, M.1    McCann, M.T.2    Johnson, P.E.3    Lemieux, B.4
  • 18
    • 0034005028 scopus 로고    scopus 로고
    • Simplified screening for organic acidemia using GC/MS and dried urine filter paper: A study on neonatal mass screening
    • Fu X, Iga M, Kimura M, Yamaguchi S. Simplified screening for organic acidemia using GC/MS and dried urine filter paper: a study on neonatal mass screening. Early Hum Dev 2000; 58: 41-55.
    • (2000) Early Hum Dev , vol.58 , pp. 41-55
    • Fu, X.1    Iga, M.2    Kimura, M.3    Yamaguchi, S.4
  • 19
    • 0035811993 scopus 로고    scopus 로고
    • Fu X, Kimura M, Iga M, Yamaguchi S. Gas chromatographic-mass spectrometric screening for organic acidemias using dried urine filter paper: determination of α-ketoacids. J Chromatogr B Biomed Sci Appl 2001; 5; 758 (1): 87-94.
    • Fu X, Kimura M, Iga M, Yamaguchi S. Gas chromatographic-mass spectrometric screening for organic acidemias using dried urine filter paper: determination of α-ketoacids. J Chromatogr B Biomed Sci Appl 2001; 5; 758 (1): 87-94.
  • 20
    • 0036841898 scopus 로고    scopus 로고
    • Comprehensive Screening of Urine Samples for Inborn Errors of Metabolism by Electrospray Tandem Mass Spectrometry
    • Pit JJ, Eggington M, Kabler SG. Comprehensive Screening of Urine Samples for Inborn Errors of Metabolism by Electrospray Tandem Mass Spectrometry. Clin Chem 2002; 48:11: 1970-80.
    • (2002) Clin Chem , vol.48 , Issue.11 , pp. 1970-1980
    • Pit, J.J.1    Eggington, M.2    Kabler, S.G.3
  • 21
    • 57149107064 scopus 로고    scopus 로고
    • Aspectros actuales en el cribado neonatal: Aplicación de la espectrometría de tándem masas al diagnóstico precoz de los errores congénitos del metabolismo.
    • Fraga JM, Cocho JA, Castiñeiras DE, Couce ML, Bóveda MD, Iglesias AJ, et al. Aspectros actuales en el cribado neonatal: aplicación de la espectrometría de tándem masas al diagnóstico precoz de los errores congénitos del metabolismo. An Pediatr 2000; 53 (2): 81-6.
    • (2000) An Pediatr , vol.53 , Issue.2 , pp. 81-86
    • Fraga, J.M.1    Cocho, J.A.2    Castiñeiras, D.E.3    Couce, M.L.4    Bóveda, M.D.5    Iglesias, A.J.6
  • 22
    • 0037930740 scopus 로고    scopus 로고
    • ESI-MS/MS analysis of underivatised amino acids: A new tool for the diagnosys of inherited disorders of amino acid metabolism. Fragmentation study of 79 molecules of biological interest in positive and negative ionisation mode
    • Piraud M, Vianey-Saban C, Petritis K, Elfakir C, Steghens JP, Morla A, et al. ESI-MS/MS analysis of underivatised amino acids: a new tool for the diagnosys of inherited disorders of amino acid metabolism. Fragmentation study of 79 molecules of biological interest in positive and negative ionisation mode. Rapid Commum Mass Spectrum 2003; 17: 1297-311.
    • (2003) Rapid Commum Mass Spectrum , vol.17 , pp. 1297-1311
    • Piraud, M.1    Vianey-Saban, C.2    Petritis, K.3    Elfakir, C.4    Steghens, J.P.5    Morla, A.6
  • 23
    • 0038373881 scopus 로고    scopus 로고
    • Direct tandem mass spectrometry analysis of amino acids in dried blood spots without chemical derivatization for neonatal screening
    • Nagy K, Takáts Z, Pollreisz F, Szabó T, Vékey K. Direct tandem mass spectrometry analysis of amino acids in dried blood spots without chemical derivatization for neonatal screening. Rapid Commun Mass Spectrum 2003; 17: 983-90.
    • (2003) Rapid Commun Mass Spectrum , vol.17 , pp. 983-990
    • Nagy, K.1    Takáts, Z.2    Pollreisz, F.3    Szabó, T.4    Vékey, K.5
  • 24
    • 1842834377 scopus 로고    scopus 로고
    • Validation of an ESI-MS/MS screening method for acylearnitine profiling in urine specimens of neonates, childrem, adolescents and adults
    • Mueller P, Schulze A, Schindler I, Ethofer T, Buehrdel P, Ceglarek U. Validation of an ESI-MS/MS screening method for acylearnitine profiling in urine specimens of neonates, childrem, adolescents and adults. Clin Chim Acta 2003; 327: 47-57.
    • (2003) Clin Chim Acta , vol.327 , pp. 47-57
    • Mueller, P.1    Schulze, A.2    Schindler, I.3    Ethofer, T.4    Buehrdel, P.5    Ceglarek, U.6
  • 25
    • 0034039710 scopus 로고    scopus 로고
    • Evaluation of urinary acylglicines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias
    • Bonafé L, Troxler H, Kuster T, Heizmarm CW, Chamoles NA, Burlina AB, et al. Evaluation of urinary acylglicines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias. Mol Genet Metab 2000; 69: 302-11.
    • (2000) Mol Genet Metab , vol.69 , pp. 302-311
    • Bonafé, L.1    Troxler, H.2    Kuster, T.3    Heizmarm, C.W.4    Chamoles, N.A.5    Burlina, A.B.6
  • 28
    • 57149106041 scopus 로고    scopus 로고
    • II laboratorio negli scompensi acuti metabolici
    • McGraw-Hill;
    • Rizzo C. II laboratorio negli scompensi acuti metabolici. En: Durand P, Sabetta G. Malattie Genetiche. McGraw-Hill; 1998. p. 109-25.
    • (1998) Durand P, Sabetta G. Malattie Genetiche , pp. 109-125
    • Rizzo, C.1
  • 29
    • 0036229938 scopus 로고    scopus 로고
    • Metabolic, nutritional, latrogenic, and artifactual sources of urinary organic acids: A comprehensive table
    • Kumpsa A, Duez P, Mardens Y. Metabolic, nutritional, latrogenic, and artifactual sources of urinary organic acids: a comprehensive table. Clin Chem 2002; 48 (5): 708-17.
    • (2002) Clin Chem , vol.48 , Issue.5 , pp. 708-717
    • Kumpsa, A.1    Duez, P.2    Mardens, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.