메뉴 건너뛰기




Volumn 19, Issue 26, 2012, Pages 4511-4522

Tandem mass spectrometry newborn screening for inborn errors of intermediary metabolism: Abnormal profile interpretation

Author keywords

Acylcarnitines; Amino acids; Expanded newborn screening; False negative results; False positive results; Inherited metabolic disorders; Interpretation of expanded newborn screening; Maternal inherited metabolic disorders

Indexed keywords

ACETYLCARNITINE; ALANINE; ARGININE; ARGININOSUCCINIC ACID; CARNITINE; CITRULLINE; GLYCINE; HOMOCYSTEINE; METHIONINE; ORNITHINE; PHENYLALANINE; PROPIONYLCARNITINE; SUCCINYLACETONE; TYROSINE; VALINE;

EID: 84868031084     PISSN: 09298673     EISSN: 1875533X     Source Type: Journal    
DOI: 10.2174/092986712803251539     Document Type: Review
Times cited : (14)

References (134)
  • 1
    • 33744784588 scopus 로고    scopus 로고
    • Newborn screening: Toward a uniform screening panel and system - Executive summary
    • Watson, M.S.; Mann, M.Y.; Lloyd-Puryear, M.A.; Rinaldo, P.; Howell, R. Newborn Screening: Toward a Uniform Screening Panel and System - Executive Summary. Pediatrics, 2006, 117(S3), S296-S307.
    • (2006) Pediatrics , vol.117 , Issue.S3
    • Watson, M.S.1    Mann, M.Y.2    Lloyd-Puryear, M.A.3    Rinaldo, P.4    Howell, R.5
  • 2
    • 61549130602 scopus 로고    scopus 로고
    • Economic evaluation of tandem mass spectrometry newborn screening in Australia
    • Norman, R.; Haas, M.; Chaplin, M.; Joy, P.; Wilcken, B. Economic Evaluation of Tandem Mass Spectrometry Newborn Screening in Australia. Pediatrics, 2009, 123(2), 451-457.
    • (2009) Pediatrics , vol.123 , Issue.2 , pp. 451-457
    • Norman, R.1    Haas, M.2    Chaplin, M.3    Joy, P.4    Wilcken, B.5
  • 3
    • 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(4), 603-11.
    • (2012) J. Inherit. Metab. Dis. , vol.35 , Issue.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
  • 5
    • 79955691704 scopus 로고    scopus 로고
    • Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots
    • Ko, D.H.; Jun, S.H.; Park, K.U.; Song, S.H.; Kim, J.Q.; Song, J. Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots. J. Inherit. Metab. Dis., 2011, 34(2), 409-414.
    • (2011) J. Inherit. Metab. Dis. , vol.34 , Issue.2 , pp. 409-414
    • Ko, D.H.1    Jun, S.H.2    Park, K.U.3    Song, S.H.4    Kim, J.Q.5    Song, J.6
  • 6
    • 84856382616 scopus 로고    scopus 로고
    • Neonatal screening for lysosomal storage disorders
    • Fletcher, J.; Wilcken, B. Neonatal screening for lysosomal storage disorders. Lancet. 2012, 379(9813), 294-295.
    • (2012) Lancet , vol.379 , Issue.9813 , pp. 294-295
    • Fletcher, J.1    Wilcken, B.2
  • 8
    • 84892002073 scopus 로고    scopus 로고
    • Hoffmann, G.F., Ed.; Springer-Verlag Berlin Heidelberg: Germany
    • Rinaldo, P.; Matern, D. In: Inherited Metabolic Diseases; Hoffmann, G.F., Ed.; Springer-Verlag Berlin Heidelberg: Germany, 2010; pp. 251-261.
    • (2010) Inherited Metabolic Diseases , pp. 251-261
    • Rinaldo, P.1    Matern, D.2
  • 9
    • 75949111757 scopus 로고    scopus 로고
    • Acylcarnitine analysis by tandem mass spectrometry
    • Smith, E.H.; Matern, D. Acylcarnitine analysis by tandem mass spectrometry. Curr. Protoc. Hum. Genet., 2010, S64, 17810-178120.
    • (2010) Curr. Protoc. Hum. Genet. , vol.S64 , pp. 17810-178120
    • Smith, E.H.1    Matern, D.2
  • 10
    • 0242362630 scopus 로고    scopus 로고
    • Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns
    • Chace, D.H.; Kalas, T.A.; Naylor, E.W. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin. Chem., 2003, 49(11), 1797-1817.
    • (2003) Clin. Chem. , vol.49 , Issue.11 , pp. 1797-1817
    • Chace, D.H.1    Kalas, T.A.2    Naylor, E.W.3
  • 11
    • 0036405455 scopus 로고    scopus 로고
    • The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism
    • Chace, D.H.; Kalas, T.A.; Naylor, E.W. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu. Rev. Genomics. Hum. Genet., 2002, 3, 17-45.
    • (2002) Annu. Rev. Genomics. Hum Genet. , vol.3 , pp. 17-45
    • Chace, D.H.1    Kalas, T.A.2    Naylor, E.W.3
  • 12
    • 14844292112 scopus 로고    scopus 로고
    • A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing
    • Chace, D.H.; Kalas, T.A. A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. Clin. Biochem., 2005, 38(4), 296-309.
    • (2005) Clin. Biochem. , vol.38 , Issue.4 , pp. 296-309
    • Chace, D.H.1    Kalas, T.A.2
  • 13
    • 33646089205 scopus 로고    scopus 로고
    • Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: Clinical and laboratory aspects
    • Garg, U.; Dasouki, M. Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects. Clin. Biochem., 2006, 39(4), 315-332.
    • (2006) Clin. Biochem. , vol.39 , Issue.4 , pp. 315-332
    • Garg, U.1    Dasouki, M.2
  • 15
    • 0036288945 scopus 로고    scopus 로고
    • Application of tandem mass spectrometry to biochemical genetics and newborn screening
    • Carpenter, K.H.; Wiley, V. Application of tandem mass spectrometry to biochemical genetics and newborn screening. Clin. Chim. Acta., 2002, 322(1-2), 1-10.
    • (2002) Clin. Chim. Acta. , vol.322 , Issue.1-2 , pp. 1-10
    • Carpenter, K.H.1    Wiley, V.2
  • 17
    • 0034775820 scopus 로고    scopus 로고
    • Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England newborn screening program
    • Zytkovicz, T.H.; Fitzgerald, E.F.; Marsden, D.; Larson, C.A.; Shih, V.E.; Johnson, D.M.; Strauss, A.W.; Comeau, A.M.; Eaton, R.B.; Grady, G.F. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin. Chem., 2001, 47(11), 1945-1955.
    • (2001) Clin. Chem. , vol.47 , Issue.11 , pp. 1945-1955
    • Zytkovicz, T.H.1    Fitzgerald, E.F.2    Marsden, D.3    Larson, C.A.4    Shih, V.E.5    Johnson, D.M.6    Strauss, A.W.7    Comeau, A.M.8    Eaton, R.B.9    Grady, G.F.10
  • 18
    • 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(Suppl 2), S395-S404.
    • (2008) J. Inherit. Metab. Dis. , vol.31 , Issue.SUPPL. 2
    • La Marca, G.1    Malvagia, S.2    Casetta, B.3    Pasquini, E.4    Donati, M.A.5    Zammarchi, E.6
  • 19
    • 79955476700 scopus 로고    scopus 로고
    • The screening of inborn errors of metabolism in sick Chinese infants by tandem mass spectrometry and gas chromatography/mass spectrometry
    • Sun, W.; Wang, Y.; Yang, Y.; Wang, J.; Cao, Y.; Luo, F.; Lu, W.; Peng, Y.; Yao, H.; Qiu, P. The screening of inborn errors of metabolism in sick Chinese infants by tandem mass spectrometry and gas chromatography/mass spectrometry. Clin. Chim. Acta., 2011, 412(13-14), 1270-1274.
    • (2011) Clin. Chim. Acta. , vol.412 , Issue.13-14 , pp. 1270-1274
    • Sun, W.1    Wang, Y.2    Yang, Y.3    Wang, J.4    Cao, Y.5    Luo, F.6    Lu, W.7    Peng, Y.8    Yao, H.9    Qiu, P.10
  • 20
    • 0036964933 scopus 로고    scopus 로고
    • Newborn screening: New opportunities and new challenges
    • Lashley, F.R. Newborn screening: New opportunities and new challenges. Newborn Infant. Nurs. Rev., 2002, 2(4), 228-242.
    • (2002) Newborn Infant. Nurs. Rev. , vol.2 , Issue.4 , pp. 228-242
    • Lashley, F.R.1
  • 21
    • 79953748161 scopus 로고    scopus 로고
    • Analysis of organic acids and acylglycines for the diagnosis of related inborn errors of metabolism by GC- and HPLC-MS
    • la Marca, G.; Rizzo, C. Analysis of organic acids and acylglycines for the diagnosis of related inborn errors of metabolism by GC- and HPLC-MS. Methods Mol. Biol., 2011, 708, 73-98.
    • (2011) Methods Mol. Biol. , vol.708 , pp. 73-98
    • La Marca, G.1    Rizzo, C.2
  • 22
    • 54049121848 scopus 로고    scopus 로고
    • Maple syrup urine disease: Newborn screening fails to discriminate between classic and variant forms
    • Fingerhut, R.; Simon, E.; Maier, E.M.; Hennermann, J.B.; Wendel, U. Maple syrup urine disease: newborn screening fails to discriminate between classic and variant forms. Clin. Chem., 2008, 54(10), 1739-1741.
    • (2008) Clin. Chem. , vol.54 , Issue.10 , pp. 1739-1741
    • Fingerhut, R.1    Simon, E.2    Maier, E.M.3    Hennermann, J.B.4    Wendel, U.5
  • 23
    • 0034502503 scopus 로고    scopus 로고
    • Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation
    • Bodner-Leidecker, A.; Wendel, U.; Saudubray, J.M.; Schadewaldt, P. Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation. J. Inherit. Metab. Dis., 2000, 23(8), 805-818.
    • (2000) J. Inherit. Metab. Dis. , vol.23 , Issue.8 , pp. 805-818
    • Bodner-Leidecker, A.1    Wendel, U.2    Saudubray, J.M.3    Schadewaldt, P.4
  • 24
    • 79959866973 scopus 로고    scopus 로고
    • Chromatographic diagnosis of maple syrup urine disease by measuring the lalloisoleucine/L-phenylalanine ratio in dried blood spots
    • Jeong, J.S.; Sim, H.J.; Lee, Y.M.; Yoon, H.R.; Kwon, H.J.; Hong, S.P. Chromatographic diagnosis of maple syrup urine disease by measuring the Lalloisoleucine/L-phenylalanine ratio in dried blood spots. J. Chromatogr. B. Analyt. Technol. Biomed. Life Sci., 2011, 879(22), 2171-2174.
    • (2011) J. Chromatogr. B. Analyt. Technol. Biomed. Life Sci. , vol.879 , Issue.22 , pp. 2171-2174
    • Jeong, J.S.1    Sim, H.J.2    Lee, Y.M.3    Yoon, H.R.4    Kwon, H.J.5    Hong, S.P.6
  • 25
    • 79951693205 scopus 로고    scopus 로고
    • Argininosuccinate lyase deficiencyargininosuccinic aciduria and beyond
    • Erez, A.; Nagamani, S.C.; Lee, B. Argininosuccinate lyase deficiencyargininosuccinic aciduria and beyond. Am. J. Med. Genet. C. Semin. Med. Genet., 2011, 157(1), 45-53.
    • (2011) Am. J. Med. Genet. C. Semin. Med. Genet. , vol.157 , Issue.1 , pp. 45-53
    • Erez, A.1    Nagamani, S.C.2    Lee, B.3
  • 27
    • 79951701209 scopus 로고    scopus 로고
    • Hypermethioninemias of genetic and non-genetic origin: A review
    • Mudd, S.H. Hypermethioninemias of genetic and non-genetic origin: A review. Am. J. Med. Genet. C. Semin. Med. Genet., 2011, 157(1), 3-32.
    • (2011) Am. J. Med. Genet. C. Semin. Med. Genet. , vol.157 , Issue.1 , pp. 3-32
    • Mudd, S.H.1
  • 28
    • 18844467936 scopus 로고    scopus 로고
    • Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III
    • Ruetschi, U.; Cerone, R.; Perez-Cerda, C.; Schiaffino, M.C.; Standing, S.; Ugarte, M.; Holme, E. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. Hum. Genet., 2000, 106(6), 654-662.
    • (2000) Hum. Genet. , vol.106 , Issue.6 , pp. 654-662
    • Ruetschi, U.1    Cerone, R.2    Perez-Cerda, C.3    Schiaffino, M.C.4    Standing, S.5    Ugarte, M.6    Holme, E.7
  • 30
    • 13444278657 scopus 로고    scopus 로고
    • Hyperargininemia due to liver arginase deficiency
    • Crombez, E.A.; Cederbaum, S.D. Hyperargininemia due to liver arginase deficiency. Mol. Genet. Metab., 2005, 84(3), 243-251.
    • (2005) Mol. Genet. Metab. , vol.84 , Issue.3 , pp. 243-251
    • Crombez, E.A.1    Cederbaum, S.D.2
  • 31
    • 67349085037 scopus 로고    scopus 로고
    • Disorders of biopterin metabolism
    • Longo, N. Disorders of biopterin metabolism. J. Inherit. Metab. Dis., 2008, 32(3), 333-342.
    • (2008) J. Inherit. Metab. Dis. , vol.32 , Issue.3 , pp. 333-342
    • Longo, N.1
  • 32
    • 77149127415 scopus 로고    scopus 로고
    • Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country
    • Ibarra-Gonzalez, I.; Fernandez-Lainez, C.; Vela-Amieva, M. Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country. Clin. Biochem., 2010, 43(4-5), 461-466.
    • (2010) Clin. Biochem. , vol.43 , Issue.4-5 , pp. 461-466
    • Ibarra-Gonzalez, I.1    Fernandez-Lainez, C.2    Vela-Amieva, M.3
  • 35
    • 84868006073 scopus 로고    scopus 로고
    • Scriver, C.R.; Beaudet, A.L.; Valle, D., Eds.; McGraw Hill Inc: USA
    • Hamosh, A. In: The metabolic and molecular bases of inherited disease; Scriver, C.R.; Beaudet, A.L.; Valle, D., Eds.; McGraw Hill Inc: USA, 2001; pp 2064-2078.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2064-2078
    • Hamosh, A.1
  • 36
    • 33748909137 scopus 로고    scopus 로고
    • Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
    • Camacho, J.A.; Mardach, R.; Rioseco-Camacho, N.; Ruiz-Pesini, E.; Derbeneva, O.; Andrade, D.; Zaldivar, F.; Qu, Y.; Cederbaum, S.D. Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Pediatr. Res., 2006, 60(4), 423-429.
    • (2006) Pediatr. Res. , vol.60 , Issue.4 , pp. 423-429
    • Camacho, J.A.1    Mardach, R.2    Rioseco-Camacho, N.3    Ruiz-Pesini, E.4    Derbeneva, O.5    Andrade, D.6    Zaldivar, F.7    Qu, Y.8    Cederbaum, S.D.9
  • 40
    • 70350169096 scopus 로고    scopus 로고
    • A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy
    • Yokoi, K.; Ito, T.; Maeda, Y.; Nakajima, Y.; Kurono, Y.; Sugiyama, N.; Togari, H. A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy. Brain Dev., 2009, 31, (10), 775-778.
    • (2009) Brain Dev. , vol.31 , Issue.10 , pp. 775-778
    • Yokoi, K.1    Ito, T.2    Maeda, Y.3    Nakajima, Y.4    Kurono, Y.5    Sugiyama, N.6    Togari, H.7
  • 41
    • 0345830473 scopus 로고    scopus 로고
    • 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency: Impaired catabolism of isoleucine presenting as neurodegenerative disease
    • Sass, J.O.; Forstner, R.; Sperl, W. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease. Brain Dev., 2004, 2(1), 12-14.
    • (2004) Brain Dev. , vol.2 , Issue.1 , pp. 12-14
    • Sass, J.O.1    Forstner, R.2    Sperl, W.3
  • 46
    • 33750631826 scopus 로고    scopus 로고
    • A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation
    • Di Rocco, M.; Caruso, U.; Briem, E.; Rossi, A.; Allegri, A.E.; Buzzi, D.; Tiranti, V. A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. Mol. Genet. Metab., 2006, 89(4), 395-397.
    • (2006) Mol. Genet. Metab. , vol.89 , Issue.4 , pp. 395-397
    • Di Rocco, M.1    Caruso, U.2    Briem, E.3    Rossi, A.4    Allegri, A.E.5    Buzzi, D.6    Tiranti, V.7
  • 47
    • 0031863503 scopus 로고    scopus 로고
    • Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism
    • Nowaczyk, M.J.; Lehotay, D.C.; Platt, B.A.; Fisher, L.; Tan, R.; Phillips, H.; Clarke, J.T. Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. Metabolism, 1998, 47(7), 836-839.
    • (1998) Metabolism , vol.47 , Issue.7 , pp. 836-839
    • Nowaczyk, M.J.1    Lehotay, D.C.2    Platt, B.A.3    Fisher, L.4    Tan, R.5    Phillips, H.6    Clarke, J.T.7
  • 51
    • 77951204836 scopus 로고    scopus 로고
    • Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids
    • Al-Dirbashi, O.Y.; Fisher, L.; McRoberts, C.; Siriwardena, K.; Geraghty, M.; Chakraborty, P. Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids. Clin. Biochem., 2010, 43, 691-693.
    • (2010) Clin. Biochem. , vol.43 , pp. 691-693
    • Al-Dirbashi, O.Y.1    Fisher, L.2    McRoberts, C.3    Siriwardena, K.4    Geraghty, M.5    Chakraborty, P.6
  • 54
    • 33646533134 scopus 로고    scopus 로고
    • Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
    • Vockley, J.; Ensenauer, R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am. J. Med. Genet. C. Semin. Med. Genet., 2006, 142C(2), 95-103.
    • (2006) Am. J. Med. Genet. C. Semin. Med. Genet. , vol.142 C , Issue.2 , pp. 95-103
    • Vockley, J.1    Ensenauer, R.2
  • 55
    • 23044444836 scopus 로고    scopus 로고
    • Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia
    • Loots, D.T.; Erasmus, E.; Mienie, L.J. Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia. Clin. Chem., 2005, 51(8), 1510-1512.
    • (2005) Clin. Chem. , vol.51 , Issue.8 , pp. 1510-1512
    • Loots, D.T.1    Erasmus, E.2    Mienie, L.J.3
  • 56
    • 33847168609 scopus 로고    scopus 로고
    • 2-methylbutyryl-coa dehydrogenase deficiency in hmong infants identified by expanded newborn screen
    • van Calcar, S.C.; Gleason, L.A.; Lindh, H.; Hoffman, G.; Rhead, W.; Vockley, G.; Wolff, J.A.; Durkin, M.S. 2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen. W.M.J., 2007, 106(1), 12-15.
    • (2007) W.M.J. , vol.106 , Issue.1 , pp. 12-15
    • Van Calcar, S.C.1    Gleason, L.A.2    Lindh, H.3    Hoffman, G.4    Rhead, W.5    Vockley, G.6    Wolff, J.A.7    Durkin, M.S.8
  • 57
    • 14544272325 scopus 로고    scopus 로고
    • 2-ethylhydracrylic aciduria in short/branched-chain acyl-coa dehydrogenase deficiency: Application to diagnosis and implications for the rpathway of isoleucine oxidation
    • Korman, S.H.; Andresen, B.S.; Zeharia, A.; Gutman, A.; Boneh, A.; Pitt, J.J. 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the Rpathway of isoleucine oxidation. Clin. Chem., 2005, 51(3), 610-617.
    • (2005) Clin. Chem. , vol.51 , Issue.3 , pp. 610-617
    • Korman, S.H.1    Andresen, B.S.2    Zeharia, A.3    Gutman, A.4    Boneh, A.5    Pitt, J.J.6
  • 58
    • 33750606395 scopus 로고    scopus 로고
    • Inborn errors of isoleucine degradation: A review
    • Korman, S.H. Inborn errors of isoleucine degradation: a review. Mol. Genet. Metab., 2006, 89(4), 289-299.
    • (2006) Mol. Genet. Metab. , vol.89 , Issue.4 , pp. 289-299
    • Korman, S.H.1
  • 59
    • 0033754125 scopus 로고    scopus 로고
    • Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-coa dehydrogenase deficiency: Identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-coa dehydrogenases in isoleucine and valine metabolism
    • Andresen, B.S.; Christensen, E.; Corydon, T.J.; Bross, P.; Pilgaard, B.; Wanders, R.J.; Ruiter, J.P.; Simonsen, H.; Winter, V.; Knudsen, I.; Schroeder, L.D.; Gregersen, N.; Skovby, F. Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Am. J. Hum. Genet., 2000, 67(5), 1095-1103.
    • (2000) Am. J. Hum. Genet. , vol.67 , Issue.5 , pp. 1095-1103
    • Andresen, B.S.1    Christensen, E.2    Corydon, T.J.3    Bross, P.4    Pilgaard, B.5    Wanders, R.J.6    Ruiter, J.P.7    Simonsen, H.8    Winter, V.9    Knudsen, I.10    Schroeder, L.D.11    Gregersen, N.12    Skovby, F.13
  • 60
    • 84897922434 scopus 로고    scopus 로고
    • The first case of mitochondrial acetoacetyl-coa thiolase deficiency identified by expanded newborn metabolic screening in Italy: The importance of an integrated diagnostic approach
    • DOI: 10.1007/s10545-009-9028-3 URL
    • Catanzano, F.; Ombrone, D.; Di Stefano, C.; Rossi, A.; Nosari, N.; Scolamiero, E.; Tandurella, I.; Frisso, G.; Parenti, G.; Ruoppolo, M.; Andria, G.; Salvatore, F. The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach. J. Inherit. Metab. Dis., 2010, DOI: 10.1007/s10545-009-9028-3: Available from: URL'.http://www.springerlink. com/content/qxv8612p7005q128/.
    • (2010) J. Inherit. Metab. Dis.
    • Catanzano, F.1    Ombrone, D.2    Di Stefano, C.3    Rossi, A.4    Nosari, N.5    Scolamiero, E.6    Tandurella, I.7    Frisso, G.8    Parenti, G.9    Ruoppolo, M.10    Andria, G.11    Salvatore, F.12
  • 62
    • 34247122413 scopus 로고    scopus 로고
    • Neuroimage findings in 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency
    • Cazorla, M.R.; Verdu, A.; Perez-Cerda, C.; Ribes, A. Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency. Pediatr. Neurol., 2007, 36(4), 264-267.
    • (2007) Pediatr. Neurol. , vol.36 , Issue.4 , pp. 264-267
    • Cazorla, M.R.1    Verdu, A.2    Perez-Cerda, C.3    Ribes, A.4
  • 63
    • 0033667891 scopus 로고    scopus 로고
    • Progressive infantile neurodegeneration caused by 2-methyl-3- hydroxybutyryl-coa dehydrogenase deficiency: A novel inborn error of branched-chain fatty acid and isoleucine metabolism
    • Zschocke, J.; Ruiter, J.P.; Brand, J.; Lindner, M.; Hoffmann, G.F.; Wanders, R.J.; Mayatepek, E. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr. Res., 2000, 48(6), 852-855.
    • (2000) Pediatr. Res. , vol.48 , Issue.6 , pp. 852-855
    • Zschocke, J.1    Ruiter, J.P.2    Brand, J.3    Lindner, M.4    Hoffmann, G.F.5    Wanders, R.J.6    Mayatepek, E.7
  • 64
    • 84881071542 scopus 로고    scopus 로고
    • 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult
    • DOI: 10.1007/s10545-009-1048-5 URL
    • Reimão, S.; Morgado, C.; Almeida, I.T.; Silva, M.; Real, H.C.; Campos, J. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult. J. Inherit. Metab. Dis., 2009, DOI: 10.1007/s10545-009-1048-5: Available from: URL'. http://www.springerlink.com/ content/c778439v144l1w33/.
    • (2009) J. Inherit. Metab. Dis.
    • Reimão, S.1    Morgado, C.2    Almeida, I.T.3    Silva, M.4    Real, H.C.5    Campos, J.6
  • 65
    • 77956061703 scopus 로고    scopus 로고
    • A case of dilated cardiomyopathy associated with 3-hydroxy-3- methylglutaryl-coenzyme A (HMG CoA) lyase deficiency
    • 2009 DOI: 10.1155/2009/183125 URL
    • Leung, A.A.; Chan, A.K.; Ezekowitz, J.A.; Leung, A.K. A Case of dilated cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-Coenzyme A (HMG CoA) lyase deficiency. Case report Med, 2009, 2009, 183125, DOI: 10.1155/2009/183125: Available from: URL'. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773375/? tool=pubmed.
    • (2009) Case Report Med , pp. 183125
    • Leung, A.A.1    Chan, A.K.2    Ezekowitz, J.A.3    Leung, A.K.4
  • 66
    • 84984956480 scopus 로고    scopus 로고
    • Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, south America
    • DOI: 10.1007/s10545-007-0756-y URL
    • Vargas, C.R.; Sitta, A.; Schmitt, G.; Ferreira, G.C.; Cardoso, M.L.; Coelho, D.; Gibson, K.M.; Wajner, M. Incidence of 3-hydroxy-3-methylglutaryl- coenzyme A lyase (HL) deficiency in Brazil, South America. J. Inherit. Metab. Dis., 2007, DOI: 10.1007/s10545-007-0756-y: Available from: URL'. http://www.springerlink.com/content/e5763250245487hv/fulltext.pdf.
    • (2007) J. Inherit. Metab. Dis.
    • Vargas, C.R.1    Sitta, A.2    Schmitt, G.3    Ferreira, G.C.4    Cardoso, M.L.5    Coelho, D.6    Gibson, K.M.7    Wajner, M.8
  • 67
    • 0343729942 scopus 로고    scopus 로고
    • 3-methylglutaconyl-coa hydratase deficiency: A new patient with speech retardation as the leading sign
    • Ensenauer, R.; Muller, C.B.; Schwab, K.O.; Gibson, K.M.; Brandis, M.; Lehnert, W. 3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign. J. Inherit. Metab. Dis., 2000, 23(4), 341-344.
    • (2000) J. Inherit. Metab. Dis. , vol.23 , Issue.4 , pp. 341-344
    • Ensenauer, R.1    Muller, C.B.2    Schwab, K.O.3    Gibson, K.M.4    Brandis, M.5    Lehnert, W.6
  • 68
    • 0036229938 scopus 로고    scopus 로고
    • Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: A comprehensive table
    • Kumps, A.; Duez, P.; Mardens Y. Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: a comprehensive table. Clin. Chem., 2002, 48(5), 708-717.
    • (2002) Clin. Chem. , vol.48 , Issue.5 , pp. 708-717
    • Kumps, A.1    Duez, P.2    Mardens, Y.3
  • 70
    • 0037381036 scopus 로고    scopus 로고
    • Tandem mass spectrometric determination of malonylcarnitine: Diagnosis and neonatal screening of malonyl-coa decarboxylase deficiency
    • Santer, R.; Fingerhut, R.; Lassker, U.; Wightman, P.J.; Fitzpatrick, D.R.; Olgemoller, B.; Roscher, A.A. Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency. Clin. Chem., 2003, 49(4), 660-662.
    • (2003) Clin. Chem. , vol.49 , Issue.4 , pp. 660-662
    • Santer, R.1    Fingerhut, R.2    Lassker, U.3    Wightman, P.J.4    Fitzpatrick, D.R.5    Olgemoller, B.6    Roscher, A.A.7
  • 71
    • 77955653743 scopus 로고    scopus 로고
    • Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis
    • Marin-Valencia, I.; Roe, C.R.; Pascual, J.M. Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Mol. Genet. Metab., 2010, 101(1), 9-17
    • (2010) Mol. Genet. Metab. , vol.101 , Issue.1 , pp. 9-17
    • Marin-Valencia, I.1    Roe, C.R.2    Pascual, J.M.3
  • 72
    • 39049136977 scopus 로고    scopus 로고
    • Disorders of fatty acid oxidation in the era of tandem mass spectrometry in newborn screening
    • Banta-Wright, S.A.; Shelton, K.C. Bennett, M.J. Disorders of Fatty Acid Oxidation in the Era of Tandem Mass Spectrometry in Newborn Screening. Newborn. Infant. Nurs. Rev., 2008, 8(1), 18-29.
    • (2008) Newborn. Infant. Nurs. Rev. , vol.8 , Issue.1 , pp. 18-29
    • Banta-Wright, S.A.1    Shelton, K.C.2    Bennett, M.J.3
  • 80
    • 77957602067 scopus 로고    scopus 로고
    • The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results
    • Wanders, R.J.; Ruiter, J.P.; L, I.J.; Waterham, H.R.; Houten, S.M. The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results. J. Inherit. Metab. Dis., 2010, 33(5), 479-494.
    • (2010) J. Inherit. Metab. Dis. , vol.33 , Issue.5 , pp. 479-494
    • Wanders, R.J.1    Ruiter, J.P.2    L, I.J.3    Waterham, H.R.4    Houten, S.M.5
  • 81
    • 77951024685 scopus 로고    scopus 로고
    • Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan
    • Tsuburaya, R.; Sakamoto, O.; Arai, N.; Kobayashi, H.; Hasegawa, Y.; Yamaguchi, S.; Shigematsu, Y.; Takayanagi, M.; Ohura, T.; Tsuchiya, S. Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan. Brain Dev., 2010, 32(5), 409-411.
    • (2010) Brain Dev. , vol.32 , Issue.5 , pp. 409-411
    • Tsuburaya, R.1    Sakamoto, O.2    Arai, N.3    Kobayashi, H.4    Hasegawa, Y.5    Yamaguchi, S.6    Shigematsu, Y.7    Takayanagi, M.8    Ohura, T.9    Tsuchiya, S.10
  • 82
    • 4444307033 scopus 로고    scopus 로고
    • Carnitine palmitoyltransferases 1 and 2: Biochemical, molecular and medical aspects
    • Bonnefont, J.P.; Djouadi, F.; Prip-Buus, C.; Gobin, S.; Munnich, A.; Bastin, J. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol. Aspects. Med, 2004, 25(5-6), 495-520.
    • (2004) Mol. Aspects. Med , vol.25 , Issue.5-6 , pp. 495-520
    • Bonnefont, J.P.1    Djouadi, F.2    Prip-Buus, C.3    Gobin, S.4    Munnich, A.5    Bastin, J.6
  • 84
    • 4444323965 scopus 로고    scopus 로고
    • Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects
    • Rubio-Gozalbo, M.E.; Bakker, J.A.; Waterham, H.R.; Wanders, R.J. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. Mol. Aspects Med., 2004, 25(5-6), 521-532.
    • (2004) Mol. Aspects Med. , vol.25 , Issue.5-6 , pp. 521-532
    • Rubio-Gozalbo, M.E.1    Bakker, J.A.2    Waterham, H.R.3    Wanders, R.J.4
  • 85
    • 77953289907 scopus 로고    scopus 로고
    • Fatty acid oxidation disorders: Maternal health and neonatal outcomes
    • Rector, R.S.; Ibdah, J.A. Fatty acid oxidation disorders: maternal health and neonatal outcomes. Semin. Fetal Neonatal Med., 2010, 15(3), 122-128.
    • (2010) Semin. Fetal Neonatal Med. , vol.15 , Issue.3 , pp. 122-128
    • Rector, R.S.1    Ibdah, J.A.2
  • 86
    • 77649107219 scopus 로고    scopus 로고
    • Region 4 Genetics Collaborative Accessed Nov 11, 2011
    • Region 4 Genetics Collaborative. MS/MS data project. http://www. region4genetics.org/msms-data-project/data-project-home.aspx (Accessed Nov 11, 2011).
    • MS/MS Data Project
  • 89
    • 55349127028 scopus 로고    scopus 로고
    • Increased C3-carnitine in a healthy premature infant
    • Chapman, K.A.; Bennett, M.J.; Sondheimer, N. Increased C3-carnitine in a healthy premature infant. Clin. Chem., 2008, 54(11), 1914-1918.
    • (2008) Clin. Chem. , vol.54 , Issue.11 , pp. 1914-1918
    • Chapman, K.A.1    Bennett, M.J.2    Sondheimer, N.3
  • 90
    • 33744515180 scopus 로고    scopus 로고
    • Two newborns with nutritional vitamin B12 deficiency: Challenges in newborn screening for vitamin B12 deficiency
    • Campbell, C.D.; Ganesh, J.; Ficicioglu, C. Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency. Haematologica., 2005, 90(12 Suppl), ECR45.
    • (2005) Haematologica. , vol.90 , Issue.12 SUPPL.
    • Campbell, C.D.1    Ganesh, J.2    Ficicioglu, C.3
  • 91
    • 41849104490 scopus 로고    scopus 로고
    • Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: Identi- fication by expanded newborn screening
    • Marble, M.; Copeland, S.; Khanfar, N.; Rosenblatt, D.S. Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identi- fication by expanded newborn screening. J. Pediatr., 2008, 152(5), 731-733.
    • (2008) J. Pediatr. , vol.152 , Issue.5 , pp. 731-733
    • Marble, M.1    Copeland, S.2    Khanfar, N.3    Rosenblatt, D.S.4
  • 92
    • 77953288432 scopus 로고    scopus 로고
    • Maternal and neonatal vitamin B12 deficiency detected through expanded newborn screening United States, 2003-2007
    • Hinton, C.F.; Ojodu, J.A,; Fernhoff, P.M.; Rasmussen, S.A.; Scanlon, K.S.; Hannon, W.H. Maternal and neonatal vitamin B12 deficiency detected through expanded newborn screening-United States, 2003-2007. J. Pediatr., 2010, 157(1), 162-163.
    • (2010) J. Pediatr. , vol.157 , Issue.1 , pp. 162-163
    • Hinton, C.F.1    Ojodu, J.A.2    Fernhoff, P.M.3    Rasmussen, S.A.4    Scanlon, K.S.5    Hannon, W.H.6
  • 93
    • 78651265106 scopus 로고    scopus 로고
    • Plasma concentration of 3-hydroxyisovaleryl carnitine is an early and sensitive indicator of marginal biotin deficiency in humans
    • Stratton, S.L.; Horvath, T.D.; Bogusiewicz, A.; Matthews, N.I.; Henrich, C.L.; Spencer, H.J.; Moran, J.H.; Mock, D.M. Plasma concentration of 3-hydroxyisovaleryl carnitine is an early and sensitive indicator of marginal biotin deficiency in humans. Am. J. Clin. Nutr., 2010, 92(6), 1399-1405.
    • (2010) Am. J. Clin. Nutr. , vol.92 , Issue.6 , pp. 1399-1405
    • Stratton, S.L.1    Horvath, T.D.2    Bogusiewicz, A.3    Matthews, N.I.4    Henrich, C.L.5    Spencer, H.J.6    Moran, J.H.7    Mock, D.M.8
  • 97
    • 82255191686 scopus 로고    scopus 로고
    • Impact of premature birth and critical illness on neonatal range of plasma amino acid concentrations determined by LC-MS/MS
    • Oladipo, O.O.; Weindel, A.L.; Saunders, A.N.; Dietzen, D.J. Impact of premature birth and critical illness on neonatal range of plasma amino acid concentrations determined by LC-MS/MS. Mol. Genet. Metab., 2011, 104(4), 476-479.
    • (2011) Mol. Genet. Metab. , vol.104 , Issue.4 , pp. 476-479
    • Oladipo, O.O.1    Weindel, A.L.2    Saunders, A.N.3    Dietzen, D.J.4
  • 99
    • 77956461984 scopus 로고    scopus 로고
    • Tandem mass spectrometric identification of dextrose markers in dried-blood spots from infants receiving total parenteral nutrition
    • Chace, D.H.; De Jesús, V.R.; Lim, T.H.; Hannon, W.H.; Spitzer, A.R. Tandem mass spectrometric identification of dextrose markers in dried-blood spots from infants receiving total parenteral nutrition. Clin. Chim. Acta., 2010, 411(21-22), 1806-1816.
    • (2010) Clin. Chim. Acta. , vol.411 , Issue.21-22 , pp. 1806-1816
    • Chace, D.H.1    De Jesús, V.R.2    Lim, T.H.3    Hannon, W.H.4    Spitzer, A.R.5
  • 102
    • 69549118945 scopus 로고    scopus 로고
    • National academy of clinical biochesmistry laboratory medicine practice guidelines: Follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary
    • Dietzen, D.J.; Rinaldo, P.; Whitley, R.J.; Rhead, W.J.; Hannon, W.H.; Garg, U.C. National academy of clinical biochesmistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary. Clin. Chem., 2009, 55(9), 1615-1626.
    • (2009) Clin. Chem. , vol.55 , Issue.9 , pp. 1615-1626
    • Dietzen, D.J.1    Rinaldo, P.2    Whitley, R.J.3    Rhead, W.J.4    Hannon, W.H.5    Garg, U.C.6
  • 105
    • 0031752221 scopus 로고    scopus 로고
    • Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme
    • Abdenur, J.E.; Chamoles, N.A.; Guinle, A.E.; Schenone, A.B.; Fuertes, A.N. Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme. J. Inherit. Metab. Dis., 1998, 21(6), 624-630.
    • (1998) J. Inherit. Metab. Dis. , vol.21 , Issue.6 , pp. 624-630
    • Abdenur, J.E.1    Chamoles, N.A.2    Guinle, A.E.3    Schenone, A.B.4    Fuertes, A.N.5
  • 106
    • 34548476003 scopus 로고    scopus 로고
    • Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The mayo clinic experience (2004-2007)
    • Matern, D.; Tortorelli, S.; Oglesbee, D.; Gavrilov, D.; Rinaldo, P., Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007). J. Inherit. Metab. Dis., 2007, 30(4), 585-592.
    • (2007) J. Inherit. Metab. Dis. , vol.30 , Issue.4 , pp. 585-592
    • Matern, D.1    Tortorelli, S.2    Oglesbee, D.3    Gavrilov, D.4    Rinaldo, P.5
  • 110
    • 0000134296 scopus 로고    scopus 로고
    • Scriver, C.R.; Beaudet, A.L.; Valle, D., Eds.; McGraw Hill Inc: New York
    • Scriver, R.C. In: The metabolic and molecular bases of inherited disease; Scriver, C.R.; Beaudet, A.L.; Valle, D., Eds.; McGraw Hill Inc: New York, 2001; pp. 1667-1724.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 1667-1724
    • Scriver, R.C.1
  • 113
    • 7944238046 scopus 로고    scopus 로고
    • Molecular biomarkers in drug development
    • Lewin, D.A.; Weiner, M.P. Molecular biomarkers in drug development. D.D.T., 2004, 9(22), 976-983.
    • (2004) D.D.T. , vol.9 , Issue.22 , pp. 976-983
    • Lewin, D.A.1    Weiner, M.P.2
  • 116
    • 6344262303 scopus 로고    scopus 로고
    • Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: Analysis of succinylacetone extracted from dried blood spots
    • Allard, P.; Genier, A.; Korson, M.S.; Zytkovicz, T.H. Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots. Clin. Biochem., 2004, 37(11), 1010-15.
    • (2004) Clin Biochem. , vol.37 , Issue.11 , pp. 1010-1015
    • Allard, P.1    Genier, A.2    Korson, M.S.3    Zytkovicz, T.H.4
  • 118
    • 33745297628 scopus 로고    scopus 로고
    • Expanded newborn screening for biochemical disorders: The effect of a false-positive result
    • Gurian, E.A.; Kinnamon, D.D.; Henry, J.J.; Waisbren S.E. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics., 2006, 117(6), 1915-1921.
    • (2006) Pediatrics , vol.117 , Issue.6 , pp. 1915-1921
    • Gurian, E.A.1    Kinnamon, D.D.2    Henry, J.J.3    Waisbren, S.E.4
  • 119
    • 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. Spec., 2006, 41(2), 263-65.
    • (2006) J. Mass. Spec. , vol.41 , Issue.2 , 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
  • 120
    • 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(4), 255-261.
    • (2006) Ment. Retard. Dev. Disabil. Res. Rev. , vol.12 , Issue.4 , pp. 255-261
    • Rinaldo, P.1    Zafari, S.2    Tortorelli, S.3    Matern, D.4
  • 121
    • 77649113667 scopus 로고    scopus 로고
    • Improving and assuring newborn screening laboratory quality worldwide: 30-year experience at the centers for disease control and prevention
    • De Jesús, V.R.; Mei, J.V.; Bell, C.J.; Hannon, W.H. Improving and assuring newborn screening laboratory quality worldwide: 30-year experience at the Centers for Disease Control and Prevention. Semin. Perinatol., 2010, 34(2), 125-133.
    • (2010) Semin. Perinatol. , vol.34 , Issue.2 , pp. 125-133
    • De Jesús, V.R.1    Mei, J.V.2    Bell, C.J.3    Hannon, W.H.4
  • 122
    • 79952189283 scopus 로고    scopus 로고
    • Quality improvement of newborn screening in real time
    • Howell, R.R. Quality improvement of newborn screening in real time. Genet. Med., 2011, 13(3), 205.
    • (2011) Genet. Med. , vol.13 , Issue.3 , pp. 205
    • Howell, R.R.1
  • 123
    • 0031454302 scopus 로고    scopus 로고
    • Age-specific distribution of plasma amino acid concentrations in a healthy pediatric population
    • Lepage, N.; McDonald, N.; Dallaire, L.; Lambert, M. Age-specific distribution of plasma amino acid concentrations in a healthy pediatric population. Clin. Chem., 1997, 43(12), 2397-2402.
    • (1997) Clin. Chem. , vol.43 , Issue.12 , pp. 2397-2402
    • Lepage, N.1    McDonald, N.2    Dallaire, L.3    Lambert, M.4
  • 124
    • 16244409538 scopus 로고    scopus 로고
    • Age-related variations in acylcarnitine and free carnitine concentrations measured by tandem mass spectrometry
    • Cavedon, C.T.; Bourdoux, P.; Mertens, K.; Van-Thi, H.V.; Herremans, N.; de Laet, C.; Goyens, P. Age-related variations in acylcarnitine and free carnitine concentrations measured by tandem mass spectrometry. Clin. Chem., 2005, 51(4), 745-752.
    • (2005) Clin. Chem. , vol.51 , Issue.4 , pp. 745-752
    • Cavedon, C.T.1    Bourdoux, P.2    Mertens, K.3    Van-Thi, H.V.4    Herremans, N.5    De Laet, C.6    Goyens, P.7
  • 127
    • 4344671931 scopus 로고    scopus 로고
    • Pseudo-glutarylcarnitinaemia in medium-chain-acyl-coa dehydrogenase deficiency detected by tandem mass spectrometry newborn screening
    • Napolitano, N.; Wiley, V.; Pitt, J.J. Pseudo-glutarylcarnitinaemia in medium-chain-acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening. J. Inherit. Metab. Dis., 2004, 27(4), 465-471.
    • (2004) J. Inherit. Metab. Dis. , vol.27 , Issue.4 , pp. 465-471
    • Napolitano, N.1    Wiley, V.2    Pitt, J.J.3
  • 129
    • 77957325732 scopus 로고    scopus 로고
    • How to use acylcarnitine profiles to help diagnose inborn errors of metabolism
    • Santra, S.; Hendriksz, C. How to use acylcarnitine profiles to help diagnose inborn errors of metabolism. Arch. Dis. Educ. Pract. Ed., 2010, 95(5), 151-156.
    • (2010) Arch. Dis. Educ. Pract. Ed. , vol.95 , Issue.5 , pp. 151-156
    • Santra, S.1    Hendriksz, C.2
  • 131
    • 84878612543 scopus 로고    scopus 로고
    • Accessed Nov 11, 2011
    • American College of Medical Genetics and Genomics. http://www.acmg.net/ AM/Template.cfm?Section=NBS-ACT-Sheets-and-A lgorithms-Table&Template=/CM/ HTMLDisplay.cfm&ContentID=5072 (Accessed Nov 11, 2011).
    • American College of Medical Genetics and Genomics
  • 132
    • 3242662769 scopus 로고    scopus 로고
    • Optimal management of phenylketonuria: A centralized expert team is more successful than a decentralized model of care
    • Camfield, C.S.; Joseph, M.; Hurley, T.; Campbell, K.; Sanderson, S.; Cam-field, P.R. Optimal management of phenylketonuria: a centralized expert team is more successful than a decentralized model of care. J. Pediatr., 2004, 145, 53-57.
    • (2004) J. Pediatr. , vol.145 , pp. 53-57
    • Camfield, C.S.1    Joseph, M.2    Hurley, T.3    Campbell, K.4    Sanderson, S.5    Cam-Field, P.R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.