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Volumn 124, Issue 2, 2009, Pages

Expanded newborn screening: Outcome in screened and unscreened patients at age 6 years

(18)  Wilcken, Bridget a,b   Haas, Marion c   Joy, Pamela a,d   Wiley, Veronica a,b   Bowling, Francis e,f   Carpenter, Kevin a,b   Christodoulou, John a,b   Cowley, David e,f   Ellaway, Carolyn a,b   Fletcher, Janice g,h   Kirk, Edwin P i,j   Lewis, Barry k   McGill, Jim f,l   Peters, Heidi m,n   Pitt, James m,n   Ranieri, Enzo g   Yaplito Lee, Joy m   Boneh, Avihu m,n  


Author keywords

Health care; Neonatal screening; Outcome assessment; Tandem mass spectrometry

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

EID: 67749135437     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2008-0586     Document Type: Article
Times cited : (132)

References (24)
  • 1
    • 0037639877 scopus 로고    scopus 로고
    • Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Results, outcome, and implications
    • Schulze A, Lindner M, Kohlmüller D, et al. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics. 2003;111(6 pt 1):1399-1406
    • (2003) Pediatrics , vol.111 , Issue.6 PART 1 , pp. 1399-1406
    • Schulze, A.1    Lindner, M.2    Kohlmüller, D.3
  • 2
    • 0344081182 scopus 로고    scopus 로고
    • Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
    • Waisbren SE, Albers S, Amato S. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003;290(19):2564-2572
    • (2003) JAMA , vol.290 , Issue.19 , pp. 2564-2572
    • Waisbren, S.E.1    Albers, S.2    Amato, S.3
  • 3
    • 21144446866 scopus 로고    scopus 로고
    • Reduced incidence of severe metabolic crisis or death in children with medium-chain acyl-CoA dehydrogenase deficiency homozygous for c. 985A>G identified by neonatal screening
    • Nennstiel-Ratzel U, Arenz S, Maier EM, et al. Reduced incidence of severe metabolic crisis or death in children with medium-chain acyl-CoA dehydrogenase deficiency homozygous for c. 985A>G identified by neonatal screening. Mol Genet Metab. 2005;85(2):157-159
    • (2005) Mol Genet Metab , vol.85 , Issue.2 , pp. 157-159
    • Nennstiel-Ratzel, U.1    Arenz, S.2    Maier, E.M.3
  • 4
    • 33845897373 scopus 로고    scopus 로고
    • Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: A cohort study
    • Wilcken B, Haas M, Joy P, et al. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet. 2007;369(9555):37-42
    • (2007) Lancet , vol.369 , Issue.9555 , pp. 37-42
    • Wilcken, B.1    Haas, M.2    Joy, P.3
  • 5
    • 33746865225 scopus 로고    scopus 로고
    • Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease
    • Simon E, Fingerhut R, Baumkötter J, Konstantopoulou V, Ratschmann R, Wendel U. Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease. J Inherit Metab Dis. 2006;29(4):527-532
    • (2006) J Inherit Metab Dis , vol.29 , Issue.4 , pp. 527-532
    • Simon, E.1    Fingerhut, R.2    Baumkötter, J.3    Konstantopoulou, V.4    Ratschmann, R.5    Wendel, U.6
  • 7
    • 34548128809 scopus 로고    scopus 로고
    • Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany
    • Kölker S, Garbade SF, Boy N, et al. Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res. 2007;62(3):357-363
    • (2007) Pediatr Res , vol.62 , Issue.3 , pp. 357-363
    • Kölker, S.1    Garbade, S.F.2    Boy, N.3
  • 10
    • 33645668108 scopus 로고    scopus 로고
    • The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005
    • Frazier DM, Millington DS, McCandless SE, et al. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J Inherit Metab Dis. 2006;29(1):76-85
    • (2006) J Inherit Metab Dis , vol.29 , Issue.1 , pp. 76-85
    • Frazier, D.M.1    Millington, D.S.2    McCandless, S.E.3
  • 11
    • 60849136588 scopus 로고    scopus 로고
    • International perspectives on the cost-effectiveness of tandem mass spectrometry for rare metabolic conditions
    • Norman R, Haas M, Wilcken B. International perspectives on the cost-effectiveness of tandem mass spectrometry for rare metabolic conditions. Health Policy. 2009;89(3):252-260
    • (2009) Health Policy , vol.89 , Issue.3 , pp. 252-260
    • Norman, R.1    Haas, M.2    Wilcken, B.3
  • 12
    • 0033406297 scopus 로고    scopus 로고
    • Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia
    • Wiley V, Carpenter K, Wilcken B. Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia. Acta Paediatr Suppl. 1999;88(432):48-51
    • (1999) Acta Paediatr Suppl , vol.88 , Issue.432 , pp. 48-51
    • Wiley, V.1    Carpenter, K.2    Wilcken, B.3
  • 14
    • 33746950960 scopus 로고    scopus 로고
    • Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: Population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
    • Stadler SC, Polanetz R, Maier EM, et al. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Hum Mutat. 2006;27(8):748-759
    • (2006) Hum Mutat , vol.27 , Issue.8 , pp. 748-759
    • Stadler, S.C.1    Polanetz, R.2    Maier, E.M.3
  • 15
    • 0037240025 scopus 로고    scopus 로고
    • Mutations in the AUH gene cause 3-methylglutaconic aciduria type I
    • Ly TB, Peters V, Gibson KM, et al. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat. 2003;21(4):401-407
    • (2003) Hum Mutat , vol.21 , Issue.4 , pp. 401-407
    • Ly, T.B.1    Peters, V.2    Gibson, K.M.3
  • 16
    • 56149106170 scopus 로고    scopus 로고
    • Short-chain acyl-coenzyme A dehydrogenase deficiency
    • Jethva R, Bennett MJ, Vockley J. Short-chain acyl-coenzyme A dehydrogenase deficiency. Mol Genet Metab. 2008;95(4):195-200
    • (2008) Mol Genet Metab , vol.95 , Issue.4 , pp. 195-200
    • Jethva, R.1    Bennett, M.J.2    Vockley, J.3
  • 17
    • 0037685217 scopus 로고    scopus 로고
    • Screening newborns for inborn errors of metabolism by tandem mass spectrometry
    • Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med. 2003;348(23):2304-2312
    • (2003) N Engl J Med , vol.348 , Issue.23 , pp. 2304-2312
    • Wilcken, B.1    Wiley, V.2    Hammond, J.3    Carpenter, K.4
  • 18
    • 33947625937 scopus 로고    scopus 로고
    • Newborn screening may fail to identify intermediate forms of maple syrup urine disease
    • Bhattacharya K, Khalili V, Wiley V, Carpenter K, Wilcken B. Newborn screening may fail to identify intermediate forms of maple syrup urine disease. J Inherit Metab Dis. 2006;29(4):586
    • (2006) J Inherit Metab Dis , vol.29 , Issue.4 , pp. 586
    • Bhattacharya, K.1    Khalili, V.2    Wiley, V.3    Carpenter, K.4    Wilcken, B.5
  • 19
    • 0142216257 scopus 로고    scopus 로고
    • Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1)
    • Häberle J, Pauli S, Schmidt E, Schulze-Eilfing B, Berning C, Koch HG. Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). Mol Genet Metab. 2003;80(3):302-306
    • (2003) Mol Genet Metab , vol.80 , Issue.3 , pp. 302-306
    • Häberle, J.1    Pauli, S.2    Schmidt, E.3    Schulze-Eilfing, B.4    Berning, C.5    Koch, H.G.6
  • 20
    • 8844230268 scopus 로고    scopus 로고
    • A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening
    • Ensenauer R, Vockley J, Willard JM, et al. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet. 2004;75(6):1136-1142
    • (2004) Am J Hum Genet , vol.75 , Issue.6 , pp. 1136-1142
    • Ensenauer, R.1    Vockley, J.2    Willard, J.M.3
  • 21
    • 33744784588 scopus 로고    scopus 로고
    • Newborn screening: Toward a uniform screening panel and system - executive summary
    • American College of Medical Genetics Newborn Screening Expert Group
    • American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system - executive summary. Pediatrics. 2006;117(5 pt 2):S296-S307
    • (2006) Pediatrics , vol.117 , Issue.5 PART 2
  • 22
    • 33745095968 scopus 로고    scopus 로고
    • International perspectives on newborn screening
    • Pollitt RJ. International perspectives on newborn screening. J Inherit Metab Dis. 2006;29(2-3): 390-396
    • (2006) J Inherit Metab Dis , vol.29 , Issue.2-3 , pp. 390-396
    • Pollitt, R.J.1
  • 23
    • 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
  • 24
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.