메뉴 건너뛰기




Volumn 101, Issue , 2014, Pages 174-182

Mass spectrometry in clinical chemistry: The case of newborn screening

Author keywords

Clinical chemistry; Inborn errors of metabolism; LC MS MS; Newborn screening; Tandem mass spectrometry

Indexed keywords

BIOLOGICAL MARKER; STEROID;

EID: 84908338776     PISSN: 07317085     EISSN: 1873264X     Source Type: Journal    
DOI: 10.1016/j.jpba.2014.03.047     Document Type: Review
Times cited : (52)

References (56)
  • 1
    • 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, 32:338-343.
    • (1963) Pediatrics , vol.32 , pp. 338-343
    • Guthrie, R.1    Susi, A.2
  • 2
    • 0025129387 scopus 로고
    • Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
    • Millington D.S., Kodo N., Norwood D.L., Roe C.R. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J. Inherit. Metab. Dis. 1990, 13:321-324.
    • (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
  • 5
    • 79957794697 scopus 로고    scopus 로고
    • Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry
    • Azzari C., la Marca G., Resti M. Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry. J. Allergy Clin. Immunol. 2011, 127:1394-1399.
    • (2011) J. Allergy Clin. Immunol. , vol.127 , pp. 1394-1399
    • Azzari, C.1    la Marca, G.2    Resti, M.3
  • 10
    • 84863882527 scopus 로고    scopus 로고
    • Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result
    • Loeber J.G., Burgard P., Cornel M.C., Rigter T., Weinreich S.S., Rupp K., Hoffmann G.F., Vittozzi L. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. J. Inherit. Metab. Dis. 2012, 35(July (4)):603-611.
    • (2012) J. Inherit. Metab. Dis. , vol.35 , Issue.JULY 4 , pp. 603-611
    • Loeber, J.G.1    Burgard, P.2    Cornel, M.C.3    Rigter, T.4    Weinreich, S.S.5    Rupp, K.6    Hoffmann, G.F.7    Vittozzi, L.8
  • 11
    • 38349053112 scopus 로고    scopus 로고
    • Newborn screening
    • Wilcken B., Wiley V. Newborn screening. Pathology 2008, 40:104-115.
    • (2008) Pathology , vol.40 , pp. 104-115
    • Wilcken, B.1    Wiley, V.2
  • 13
    • 70349957977 scopus 로고    scopus 로고
    • Is umbilical cord blood total thyroxin measurement effective in newborn screening for hypothyroidism?
    • Abduljabbar M., Al Shahri A., Afifi A. Is umbilical cord blood total thyroxin measurement effective in newborn screening for hypothyroidism?. J. Med. Screen. 2009, 16:119-123.
    • (2009) J. Med. Screen. , vol.16 , pp. 119-123
    • Abduljabbar, M.1    Al Shahri, A.2    Afifi, A.3
  • 14
    • 42449092437 scopus 로고    scopus 로고
    • Cord blood thyroxine and thyroid stimulating hormone screening for congenital hypothyroidism: how useful are they?
    • Hardy J.D., Zayed R., Doss I., Dhatt G.S. Cord blood thyroxine and thyroid stimulating hormone screening for congenital hypothyroidism: how useful are they?. J. Pediatr. Endocrinol. Metab. 2008, 21:245-249.
    • (2008) J. Pediatr. Endocrinol. Metab. , vol.21 , pp. 245-249
    • Hardy, J.D.1    Zayed, R.2    Doss, I.3    Dhatt, G.S.4
  • 15
    • 59749105166 scopus 로고    scopus 로고
    • Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study
    • Walter J.H., Patterson A., Till J., Besley G.T., Fleming G., Henderson M.J. Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study. J. Inherit. Metab. Dis. 2009, 32:95-101.
    • (2009) J. Inherit. Metab. Dis. , vol.32 , pp. 95-101
    • Walter, J.H.1    Patterson, A.2    Till, J.3    Besley, G.T.4    Fleming, G.5    Henderson, M.J.6
  • 16
    • 34548498128 scopus 로고    scopus 로고
    • Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules
    • Auray-Blais C., Cyr D., Drouin R. Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules. J. Inherit. Metab. Dis. 2007, 30:515-521.
    • (2007) J. Inherit. Metab. Dis. , vol.30 , pp. 515-521
    • Auray-Blais, C.1    Cyr, D.2    Drouin, R.3
  • 18
    • 33845972665 scopus 로고    scopus 로고
    • Making the case for objective performance metrics in newborn screening by tandem mass spectrometry
    • Rinaldo P., Zafari S., Tortorelli S., Matern D. Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. Ment. Retard. Dev. Disabil. Res. Rev. 2006, 12:255-261.
    • (2006) Ment. Retard. Dev. Disabil. Res. Rev. , vol.12 , pp. 255-261
    • Rinaldo, P.1    Zafari, S.2    Tortorelli, S.3    Matern, D.4
  • 19
    • 84855605163 scopus 로고    scopus 로고
    • Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests
    • la Marca G., Malvagia S., Casetta B., Pasquini E., Donati M.A., Zammarchi E. Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests. J. Inherit. Metab. Dis. 2008, 31:S395-S404.
    • (2008) J. Inherit. Metab. Dis. , vol.31 , pp. S395-S404
    • la Marca, G.1    Malvagia, S.2    Casetta, B.3    Pasquini, E.4    Donati, M.A.5    Zammarchi, E.6
  • 20
    • 0027395318 scopus 로고
    • Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry
    • Chace D.H., Millington D.S., Terada N., Kahler S.G., Roe C.R., Hofman L.F. Rapid diagnosis of phenylketonuria by quantitative analysis for 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    Hofman, L.F.6
  • 21
    • 0021206497 scopus 로고
    • Thermospray liquid chromatography/mass spectrometry for the analysis of l-carnitine and its short-chain acyl derivatives
    • Yergey A.L., Liberato D.J., Millington D.S. Thermospray liquid chromatography/mass spectrometry for the analysis of l-carnitine and its short-chain acyl derivatives. Anal. Biochem. 1984, 139:278-283.
    • (1984) Anal. Biochem. , vol.139 , pp. 278-283
    • Yergey, A.L.1    Liberato, D.J.2    Millington, D.S.3
  • 22
    • 0023616214 scopus 로고
    • Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry
    • Millington D.S., Roe C.R., Maltby D.A. Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry. Biomed. Environ. Mass Spectrom. 1987, 14:711-716.
    • (1987) Biomed. Environ. Mass Spectrom. , vol.14 , pp. 711-716
    • Millington, D.S.1    Roe, C.R.2    Maltby, D.A.3
  • 23
    • 0001222859 scopus 로고
    • The analysis of diagnostic markers of genetic disorders in human blood and urine using tandem mass spectrometry with liquid secondary ion mass spectrometry
    • Millington D., Kodo N., Terada N., Roe D., Chace D. The analysis of diagnostic markers of genetic disorders in human blood and urine using tandem mass spectrometry with liquid secondary ion mass spectrometry. Int. J. Mass Spectrom. Ion Process. 1991, 111:211-228.
    • (1991) Int. J. Mass Spectrom. Ion Process. , vol.111 , pp. 211-228
    • Millington, D.1    Kodo, N.2    Terada, N.3    Roe, D.4    Chace, D.5
  • 24
    • 59949099140 scopus 로고    scopus 로고
    • Mass spectrometry in newborn and metabolic screening: historical perspective and future directions
    • Chace D.H. Mass spectrometry in newborn and metabolic screening: historical perspective and future directions. J. Mass Spectrom. 2009, 44:163-170.
    • (2009) J. Mass Spectrom. , vol.44 , pp. 163-170
    • Chace, D.H.1
  • 25
    • 67651096106 scopus 로고    scopus 로고
    • Improved MS/MS analysis of succinylacetone extracted from dried blood spots when combined with amino acids and acylcarnitine butyl esters
    • Chace D.H., Lim T., Hansen C.R., De Jesus V.R., Hannon W.H. Improved MS/MS analysis of succinylacetone extracted from dried blood spots when combined with amino acids and acylcarnitine butyl esters. Clin. Chim. Acta 2009, 407:6-9.
    • (2009) Clin. Chim. Acta , vol.407 , pp. 6-9
    • Chace, D.H.1    Lim, T.2    Hansen, C.R.3    De Jesus, V.R.4    Hannon, W.H.5
  • 30
    • 79952158493 scopus 로고    scopus 로고
    • Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter syndrome)
    • Wolfe B.J., Blanchard S., Sadilek M., Scott C.R., Turecek F., Gelb M.H. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter syndrome). Anal. Chem. 2011, 83:1152-1156.
    • (2011) Anal. Chem. , vol.83 , pp. 1152-1156
    • Wolfe, B.J.1    Blanchard, S.2    Sadilek, M.3    Scott, C.R.4    Turecek, F.5    Gelb, M.H.6
  • 31
    • 78650991502 scopus 로고    scopus 로고
    • Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVA
    • Khaliq T., Sadilek M., Scott C.R., Turecek F., Gelb M.H. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVA. Clin. Chem. 2011, 57:128-131.
    • (2011) Clin. Chem. , vol.57 , pp. 128-131
    • Khaliq, T.1    Sadilek, M.2    Scott, C.R.3    Turecek, F.4    Gelb, M.H.5
  • 32
    • 78449270842 scopus 로고    scopus 로고
    • Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
    • Duffey T.A., Sadilek M., Scott C.R., Turecek F., Gelb M.H. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Anal. Chem. 2010, 82:9587-9591.
    • (2010) Anal. Chem. , vol.82 , pp. 9587-9591
    • Duffey, T.A.1    Sadilek, M.2    Scott, C.R.3    Turecek, F.4    Gelb, M.H.5
  • 33
    • 57149095933 scopus 로고    scopus 로고
    • Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I
    • Blanchard S., Sadilek M., Scott C.R., Turecek F., Gelb M.H. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. Clin. Chem. 2008, 54:2067-2070.
    • (2008) Clin. Chem. , vol.54 , pp. 2067-2070
    • Blanchard, S.1    Sadilek, M.2    Scott, C.R.3    Turecek, F.4    Gelb, M.H.5
  • 34
    • 33745108808 scopus 로고    scopus 로고
    • Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders
    • Gelb M.H., Turecek F., Scott C.R., Chamole N.A. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J. Inherit. Metab. Dis. 2006, 29:397-404.
    • (2006) J. Inherit. Metab. Dis. , vol.29 , pp. 397-404
    • Gelb, M.H.1    Turecek, F.2    Scott, C.R.3    Chamole, N.A.4
  • 36
    • 68049098194 scopus 로고    scopus 로고
    • New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry
    • la Marca G., Casetta B., Malvagia S., Guerrini R., Zammarchi E. New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry. Anal. Chem. 2009, 81:6113-6121.
    • (2009) Anal. Chem. , vol.81 , pp. 6113-6121
    • la Marca, G.1    Casetta, B.2    Malvagia, S.3    Guerrini, R.4    Zammarchi, E.5
  • 38
    • 54049125089 scopus 로고    scopus 로고
    • Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry
    • Zhang X.K., Elbin C.S., Chuang W.L., Cooper S.K., Marashio C.A., Beauregard C., Keutzer J.M. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin. Chem. 2008, 54:1725-1728.
    • (2008) Clin. Chem. , vol.54 , pp. 1725-1728
    • Zhang, X.K.1    Elbin, C.S.2    Chuang, W.L.3    Cooper, S.K.4    Marashio, C.A.5    Beauregard, C.6    Keutzer, J.M.7
  • 39
    • 32944481866 scopus 로고    scopus 로고
    • Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening
    • Malvagia S., la Marca G., Casetta B., Gasperini S., Pasquini E., Donati M.A., Zammarchi E. Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening. J. Mass Spectrom. 2006, 41:263-265.
    • (2006) J. Mass Spectrom. , vol.41 , pp. 263-265
    • Malvagia, S.1    la Marca, G.2    Casetta, B.3    Gasperini, S.4    Pasquini, E.5    Donati, M.A.6    Zammarchi, E.7
  • 44
    • 34047187653 scopus 로고    scopus 로고
    • Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening
    • Tan E.S., Wiley V., Carpenter K., Wilcken B. Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. Mol. Genet. Metab. 2007, 90:446-448.
    • (2007) Mol. Genet. Metab. , vol.90 , pp. 446-448
    • Tan, E.S.1    Wiley, V.2    Carpenter, K.3    Wilcken, B.4
  • 48
    • 84890483391 scopus 로고    scopus 로고
    • Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: a retrospective and prospective evaluation
    • Seo J.Y., Park H.D., Kim J.W., Oh H.J., Yang J.S., Chang Y.S., Park W.S., Lee S.Y. Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: a retrospective and prospective evaluation. J. Perinat. Med. 2014, 42:121-127.
    • (2014) J. Perinat. Med. , vol.42 , pp. 121-127
    • Seo, J.Y.1    Park, H.D.2    Kim, J.W.3    Oh, H.J.4    Yang, J.S.5    Chang, Y.S.6    Park, W.S.7    Lee, S.Y.8
  • 51
    • 34347398246 scopus 로고    scopus 로고
    • Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry
    • la Marca G., Malvagia S., Pasquini E., Innocenti M., Donati M.A., Zammarchi E. Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry. Clin. Chem. 2007, 53:1364-1369.
    • (2007) Clin. Chem. , vol.53 , pp. 1364-1369
    • la Marca, G.1    Malvagia, S.2    Pasquini, E.3    Innocenti, M.4    Donati, M.A.5    Zammarchi, E.6
  • 53
    • 84904128335 scopus 로고    scopus 로고
    • Simple, fast, and simultaneous detection of plasma total homocysteine, methylmalonic acid, methionine, and 2-methylcitric acid using liquid chromatography and mass spectrometry (LC/MS/MS)
    • Fu X., Xu Y.K., Chan P., Pattengale P.K. Simple, fast, and simultaneous detection of plasma total homocysteine, methylmalonic acid, methionine, and 2-methylcitric acid using liquid chromatography and mass spectrometry (LC/MS/MS). JIMD Rep. 2013, 10:69-78.
    • (2013) JIMD Rep. , vol.10 , pp. 69-78
    • Fu, X.1    Xu, Y.K.2    Chan, P.3    Pattengale, P.K.4
  • 54
    • 84878347850 scopus 로고    scopus 로고
    • Second-tier test for quantification of underivatized amino acids in dry blood spot for metabolic diseases in newborn screening
    • Wang C., Zhu H., Zhang W., Song F., Liu Z., Liu S. Second-tier test for quantification of underivatized amino acids in dry blood spot for metabolic diseases in newborn screening. Amino Acids 2013, 44:661-671.
    • (2013) Amino Acids , vol.44 , pp. 661-671
    • Wang, C.1    Zhu, H.2    Zhang, W.3    Song, F.4    Liu, Z.5    Liu, S.6
  • 55
    • 84865475218 scopus 로고    scopus 로고
    • A rapid UPLC-MS/MS method for simultaneous separation of 48 acylcarnitines in dried blood spots and plasma useful as a second-tier test for expanded newborn screening
    • Gucciardi A., Pirillo P., Di Gangi I.M., Naturale M., Giordano G. A rapid UPLC-MS/MS method for simultaneous separation of 48 acylcarnitines in dried blood spots and plasma useful as a second-tier test for expanded newborn screening. Anal. Bioanal. Chem. 2012, 404:741-751.
    • (2012) Anal. Bioanal. Chem. , vol.404 , pp. 741-751
    • Gucciardi, A.1    Pirillo, P.2    Di Gangi, I.M.3    Naturale, M.4    Giordano, G.5
  • 56
    • 84855161065 scopus 로고    scopus 로고
    • An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples
    • Alodaib A., Carpenter K., Wiley V., Sim K., Christodoulou J., Wilcken B. An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples. Ann. Clin. Biochem. 2011, 48:468-470.
    • (2011) Ann. Clin. Biochem. , vol.48 , pp. 468-470
    • Alodaib, A.1    Carpenter, K.2    Wiley, V.3    Sim, K.4    Christodoulou, J.5    Wilcken, B.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.