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Volumn 23, Issue 12, 2010, Pages 1245-1252

Application of liquid chromatography-tandem mass spectrometry (LC-MS/MS) in screening of high risk children with inherited metabolic diseases in northern China

Author keywords

Acylcarnitine; Amino acid; Inherited metabolic diseases; Liquid chromatography tandem mass spectrometry; Morbidity

Indexed keywords

ACIDEMIA; AMINO ACID DEFICIENCY; ARTICLE; CARNITINE TRANSPORT BARRIER; CHILD; CHINA; CITRULLINEMIA; FATTY ACID DISORDER; FEMALE; GAS CHROMATOGRAPHY; HIGH RISK PATIENT; HOMOCYSTINURIA; HUMAN; HYPERARGININEMIA; HYPERPHENYLALANINEMIA; INFANT; INHERITED METABOLIC DISEASE; ISOVALERIC ACIDEMIA; LABORATORY TEST; LIQUID CHROMATOGRAPHY; MAJOR CLINICAL STUDY; MALE; MAPLE SYRUP URINE DISEASE; MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY; METABOLIC DISORDER; METHYLMALONIC ACIDEMIA; MORBIDITY; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NEWBORN; PROPIONIC ACIDEMIA; PROTEIN DEFICIENCY; SCREENING; TANDEM MASS SPECTROMETRY; TRIFUNCTIONAL PROTEIN DEFICIENCY; TYROSINEMIA;

EID: 79955498438     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/jpem.2010.198     Document Type: Article
Times cited : (10)

References (19)
  • 1
    • 0032337559 scopus 로고    scopus 로고
    • Inborn errors of metabolism in infancy: A guide to diagnosis
    • Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics 1998; 102(1): 1-9
    • (1998) Pediatrics , vol.102 , Issue.1 , pp. 1-9
    • Burton, B.K.1
  • 2
    • 56049092524 scopus 로고    scopus 로고
    • Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': Albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008
    • Scriver CR. Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008. J Inherit Metab Dis 2008; 31(5): 580-598.
    • (2008) J Inherit Metab Dis , vol.31 , Issue.5 , pp. 580-598
    • Scriver, C.R.1
  • 3
    • 0034858608 scopus 로고    scopus 로고
    • Inborn errors of metabolism at the turn of the millennium
    • Baric I, Fumic K, Hoffmann GF. Inborn errors of metabolism at the turn of the millennium .Croat Med J 2001; 42(4):379-383. (Pubitemid 32781444)
    • (2001) Croatian Medical Journal , vol.42 , Issue.4 , pp. 379-383
    • Baric, I.1    Fumic, K.2    Hoffmann, G.F.3
  • 4
    • 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(3):321-324. (Pubitemid 20338872)
    • (1990) Journal of Inherited Metabolic Disease , vol.13 , Issue.3 , pp. 321-324
    • Millington, D.S.1    Kodo, N.2    Norwood, D.L.3    Roe, C.R.4
  • 5
    • 34548515288 scopus 로고    scopus 로고
    • Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four-year report
    • DOI 10.1007/s10545-007-0543-9
    • Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Gu XF. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report. J Inherit Metab Dis 2007; 30(4):507-14. (Pubitemid 47377045)
    • (2007) Journal of Inherited Metabolic Disease , vol.30 , Issue.4 , pp. 507-514
    • Han, L.S.1    Ye, J.2    Qiu, W.J.3    Gao, X.L.4    Wang, Y.5    Gu, X.F.6
  • 6
    • 85009458874 scopus 로고    scopus 로고
    • A study of screening for 748 high risk children with inborn errors metabolism using tandem mass spectrometry
    • Jiang JH, Cao WF, Jiang DG, Li P, Jia XF.A study of screening for 748 high risk children with inborn errors metabolism using tandem mass spectrometry. Guangdong Medical Journal 2008; 29(3):357-359.
    • (2008) Guangdong Medical Journal , vol.29 , Issue.3 , pp. 357-359
    • Jiang, J.H.1    Cao, W.F.2    Jiang, D.G.3    Li, P.4    Jia, X.F.5
  • 7
    • 0030818755 scopus 로고    scopus 로고
    • Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism
    • DOI 10.1007/s004310050685
    • Coelho JC, Wajner M, Burin MG, Vargas CR, Giugliani R. Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism. Eur J Pediatr 1997; 156(8):650-4. (Pubitemid 27351857)
    • (1997) European Journal of Pediatrics , vol.156 , Issue.8 , pp. 650-654
    • Coelho, J.C.1    Wajner, M.2    Burin, M.G.3    Vargas, C.R.4    Giugliani, R.5
  • 9
    • 0028895728 scopus 로고
    • Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry
    • Chace DH, Hillman SL, Millington DS, Kahler SG, Roe CR, Naylor EW. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem 1995; 41(1): 62-68.
    • (1995) Clin Chem , vol.41 , Issue.1 , pp. 62-68
    • Chace, D.H.1    Hillman, S.L.2    Millington, D.S.3    Kahler, S.G.4    Roe, C.R.5    Naylor, E.W.6
  • 10
    • 0027395318 scopus 로고
    • Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry
    • Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Hofman LF. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem 1993; 39(1): 66-71. (Pubitemid 23034958)
    • (1993) Clinical Chemistry , vol.39 , Issue.1 , pp. 66-71
    • Chace, D.H.1    Millington, D.S.2    Terada, N.3    Kahler, S.G.4    Roe, C.R.5    Hofman, L.F.6
  • 11
    • 0029121111 scopus 로고
    • Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry
    • Rashed MS, Ozand PT, Bucknall MP, Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 1995; 38(3): 324-331
    • (1995) Pediatr Res , vol.38 , Issue.3 , pp. 324-331
    • Rashed, M.S.1    Ozand, P.T.2    Bucknall, M.P.3    Little, D.4
  • 12
    • 33748435678 scopus 로고    scopus 로고
    • State newborn screening in the tandem mass spectrometry era: More tests, more false-positive results
    • Tarini BA, Christakis DA, Welch HG. State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results. Pediatrics 2007; 118(2):448-456
    • (2007) Pediatrics , vol.118 , Issue.2 , pp. 448-456
    • Tarini, B.A.1    Christakis, D.A.2    Welch, H.G.3
  • 13
    • 33745075959 scopus 로고    scopus 로고
    • Mini-symposium: Newborn screening for inborn errors of metabolism-clinical effectiveness
    • Wilcken B. Mini-symposium: newborn screening for inborn errors of metabolism-clinical effectiveness. J Inherit Metab Dis 2007; 29(2-3):366-9.
    • (2007) J Inherit Metab Dis , vol.29 , Issue.2-3 , pp. 366-9
    • Wilcken, B.1
  • 16
    • 0037639877 scopus 로고    scopus 로고
    • Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Results, outcome, and implications
    • DOI 10.1542/peds.111.6.1399
    • Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF.Expanded Newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 2003; 111(6 Pt 1):1399-406. (Pubitemid 36682277)
    • (2003) Pediatrics , vol.111 , Issue.6 , pp. 1399-1406
    • Schulze, A.1    Lindner, M.2    Kohlmuller, D.3    Olgemoller, K.4    Mayatepek, E.5    Hoffmann, G.F.6
  • 17
    • 0034956576 scopus 로고    scopus 로고
    • Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death
    • Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem.2001; 47(7):1166-82. (Pubitemid 32579103)
    • (2001) Clinical Chemistry , vol.47 , Issue.7 , pp. 1166-1182
    • Chace, D.H.1    DiPerna, J.C.2    Mitchell, B.L.3    Sgroi, B.4    Hofman, L.F.5    Naylor, E.W.6
  • 18
    • 34548488231 scopus 로고    scopus 로고
    • Neonatal screening in Europe; the situation in 2004
    • DOI 10.1007/s10545-007-0644-5
    • Loeber JG. Neonatal screening in Europe: the situation in 2004. J Inherit Metab Dis 2007; 30(4):430-8. (Pubitemid 47377038)
    • (2007) Journal of Inherited Metabolic Disease , vol.30 , Issue.4 , pp. 430-438
    • Loeber, J.G.1
  • 19
    • 34548483425 scopus 로고    scopus 로고
    • Newborn screening in North American
    • Therrell B L, Adams J. Newborn screening in North American. J Inherit Metab Dis 2007; 30(4):447-65.
    • (2007) J Inherit Metab Dis , vol.30 , Issue.4 , pp. 447-465
    • Therrell, B.L.1    Adams, J.2


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