메뉴 건너뛰기




Volumn 24, Issue 4, 2007, Pages

Keeping up with the newborn screening revolution

Author keywords

[No Author keywords available]

Indexed keywords


EID: 34249689535     PISSN: 87500507     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (1)

References (51)
  • 1
    • 0001600393 scopus 로고
    • Blood screening for phenylketonuria
    • Guthrie R: Blood screening for phenylketonuria. JAMA 1961;178:863
    • (1961) JAMA , vol.178 , pp. 863
    • Guthrie, R.1
  • 2
    • 0004299939 scopus 로고
    • National Research Council, Committee for the Study of Inborn Errors of Metabolism:, Washington, D.C, National Academy of Sciences;
    • National Research Council, Committee for the Study of Inborn Errors of Metabolism: Genetic Screening: Programs, principles and research. Washington, D.C.: National Academy of Sciences; 1975
    • (1975) Genetic Screening: Programs, principles and research
  • 4
    • 0017743853 scopus 로고
    • Intellectual assessment of 111 four-year-old children with phenylketonuria
    • Dobson JC, Williamson ML, Azen C, et al: Intellectual assessment of 111 four-year-old children with phenylketonuria, Pediatrics 1977; 60:822
    • (1977) Pediatrics , vol.60 , pp. 822
    • Dobson, J.C.1    Williamson, M.L.2    Azen, C.3
  • 5
    • 0018937431 scopus 로고
    • The diagnosis of phenylketonuria: A report from the collaborative study of children treated for phenylketonuria
    • O'Flynn ME, Holtzman NA, Blaskovics M, et al: The diagnosis of phenylketonuria: A report from the collaborative study of children treated for phenylketonuria. Am J Dis Child 1980; 134:769
    • (1980) Am J Dis Child , vol.134 , pp. 769
    • O'Flynn, M.E.1    Holtzman, N.A.2    Blaskovics, M.3
  • 6
    • 0019156116 scopus 로고
    • Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies
    • Lenke RR, Levy HL: Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N Engl J Med 1980;303:120
    • (1980) N Engl J Med , vol.303 , pp. 120
    • Lenke, R.R.1    Levy, H.L.2
  • 7
    • 34249677207 scopus 로고    scopus 로고
    • Save Babies Through Screening Foundation, Available at:, Accessed March 6
    • Save Babies Through Screening Foundation. A parent's guide to newborn screening. Available at: www.savebabies.org/library/ HandoutAParentsGuidetoNBS.pdf. Accessed March 6, 2007
    • (2007) A parent's guide to newborn screening
  • 8
    • 0025129387 scopus 로고
    • Tandem mass spectrometry: A new method for acylcamitine profiling with potential for neonatal screening for inborn errors of metabolism
    • Millington DS, Kodo N, Norwood DL, et al: Tandem mass spectrometry: A new method for acylcamitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 1990;13:321
    • (1990) J Inherit Metab Dis , vol.13 , pp. 321
    • Millington, D.S.1    Kodo, N.2    Norwood, D.L.3
  • 9
    • 0034531836 scopus 로고    scopus 로고
    • American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee Working Group. Tandem mass spectrometry in newborn screening. Genet Med 2000;2:267
    • American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee Working Group. Tandem mass spectrometry in newborn screening. Genet Med 2000;2:267
  • 10
    • 2342635737 scopus 로고    scopus 로고
    • Clinical biochemical genetics in the twenty-first century
    • discussion 27
    • Rinaldo P, Hahn S, Matern D: Clinical biochemical genetics in the twenty-first century. Acta Paediatr Suppl 2004;93:22; discussion 27
    • (2004) Acta Paediatr Suppl , vol.93 , pp. 22
    • Rinaldo, P.1    Hahn, S.2    Matern, D.3
  • 11
    • 33748435678 scopus 로고    scopus 로고
    • State newborn screening in the tandem mass spectrometry era: More tests, false positives
    • Tarini BA, Christakis DA, Welch HG: State newborn screening in the tandem mass spectrometry era: More tests, false positives. Pediatrics 2006;118:456
    • (2006) Pediatrics , vol.118 , pp. 456
    • Tarini, B.A.1    Christakis, D.A.2    Welch, H.G.3
  • 14
    • 80051735121 scopus 로고    scopus 로고
    • National Newborn Screening and Genetics Resource Center, Austin, Texas
    • National Newborn Screening and Genetics Resource Center. National newborn screening status report-2007. Austin, Texas
    • National newborn screening status report-2007
  • 15
    • 0030993033 scopus 로고    scopus 로고
    • State-to-state variations in newborn screening policies
    • Stoddard JJ, Farrell PM: State-to-state variations in newborn screening policies. Arch Pediatr Adolesc Med 1997; 151:561
    • (1997) Arch Pediatr Adolesc Med , vol.151 , pp. 561
    • Stoddard, J.J.1    Farrell, P.M.2
  • 16
    • 33646853843 scopus 로고    scopus 로고
    • Botkin JR, Clayton EW, Fost INC, et al: Newborn screening technology: proceed with caution. Pediatrics 2006; 117:1793
    • Botkin JR, Clayton EW, Fost INC, et al: Newborn screening technology: proceed with caution. Pediatrics 2006; 117:1793
  • 17
    • 0037021832 scopus 로고    scopus 로고
    • Screening for inherited metabolic disease in newborn infants using tandem mass spectrometry
    • Leonard JV, Dezateux C: Screening for inherited metabolic disease in newborn infants using tandem mass spectrometry. BMJ 2002;324:4
    • (2002) BMJ , vol.324 , pp. 4
    • Leonard, J.V.1    Dezateux, C.2
  • 21
  • 22
    • 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;27:748
    • (2006) Hum Mutat , vol.27 , pp. 748
    • Stadler, S.C.1    Polanetz, R.2    Maier, E.M.3
  • 23
    • 33747597603 scopus 로고    scopus 로고
    • Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency
    • van Maldegem BT, Duran M, Wanders RJ, et al: Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA 2006;296:943
    • (2006) JAMA , vol.296 , pp. 943
    • van Maldegem, B.T.1    Duran, M.2    Wanders, R.J.3
  • 24
    • 0021167065 scopus 로고
    • Phenylketonuria and its variants: Observations on intellectual functioning
    • Netley C, Hanley WB, Rudner HL: Phenylketonuria and its variants: Observations on intellectual functioning. Can Med Assoc J 1984;131:751
    • (1984) Can Med Assoc J , vol.131 , pp. 751
    • Netley, C.1    Hanley, W.B.2    Rudner, H.L.3
  • 25
    • 0017870551 scopus 로고
    • Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: Clinical and biochemical studies
    • Levy HL, Sepe SJ, Walton DS, et al: Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: Clinical and biochemical studies. J Pediatr 1978;92:390
    • (1978) J Pediatr , vol.92 , pp. 390
    • Levy, H.L.1    Sepe, S.J.2    Walton, D.S.3
  • 27
    • 0014192613 scopus 로고
    • The morbidity of cardiac nondisease in schoolchildren
    • Bergman AB, Stamm SJ: The morbidity of cardiac nondisease in schoolchildren. N Engl J Med 1967;276:1008
    • (1967) N Engl J Med , vol.276 , pp. 1008
    • Bergman, A.B.1    Stamm, S.J.2
  • 28
    • 0032621833 scopus 로고    scopus 로고
    • The right place at the wrong time: Historical perspective of the relation of the thymus gland and pediatric radiology
    • Jacobs MT, Frush DP, Donnelly LF: The right place at the wrong time: Historical perspective of the relation of the thymus gland and pediatric radiology. Radiology 1999;210:11
    • (1999) Radiology , vol.210 , pp. 11
    • Jacobs, M.T.1    Frush, D.P.2    Donnelly, L.F.3
  • 29
    • 0016436378 scopus 로고
    • Continuing occurrence of thyroid carcinoma after irradiation to the neck in infancy and childhood
    • Refetoff S, Harrison J, Karanfilski BT, et al: Continuing occurrence of thyroid carcinoma after irradiation to the neck in infancy and childhood. N Engl J Med 1975;292:171
    • (1975) N Engl J Med , vol.292 , pp. 171
    • Refetoff, S.1    Harrison, J.2    Karanfilski, B.T.3
  • 30
    • 0024427207 scopus 로고
    • The risk of breast cancer after irradiation of the thymus in infancy
    • Hildreth NG, Shore RE, Dvoretsky PM: The risk of breast cancer after irradiation of the thymus in infancy. N Engl J Med 1989;321:1281
    • (1989) N Engl J Med , vol.321 , pp. 1281
    • Hildreth, N.G.1    Shore, R.E.2    Dvoretsky, P.M.3
  • 31
    • 0003755607 scopus 로고    scopus 로고
    • ed 3. Philadelphia: Elsevier;
    • Gordis L: Epidemiology, ed 3. Philadelphia: Elsevier; 2004
    • (2004) Epidemiology
    • Gordis, L.1
  • 32
    • 84872664522 scopus 로고    scopus 로고
    • American College of Medical Genetics, ACT sheets and confirmatory algorithms. Available at:, Accessed March 6, 2007
    • American College of Medical Genetics, Newborn screening ACT sheets and confirmatory algorithms. Available at: www.acmg.net/resources/policies/ ACT/condition-analyte-links.htm. Accessed March 6, 2007
    • Newborn screening
  • 33
    • 0018140048 scopus 로고
    • Tyrosinemia associated with perinatal infection with cytomegalovirus
    • Thoene J, Sweetman L, Shafai T, et al: Tyrosinemia associated with perinatal infection with cytomegalovirus. J Pediatr 1978;92:108
    • (1978) J Pediatr , vol.92 , pp. 108
    • Thoene, J.1    Sweetman, L.2    Shafai, T.3
  • 34
    • 13444253862 scopus 로고    scopus 로고
    • High protein diet mimics hypertyrosinemia in newborn infants
    • Techakittiroj C, Cunningham A, Hooper PF, et al: High protein diet mimics hypertyrosinemia in newborn infants. J Pediatr 2005;146:281
    • (2005) J Pediatr , vol.146 , pp. 281
    • Techakittiroj, C.1    Cunningham, A.2    Hooper, P.F.3
  • 35
    • 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, et al: Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 2003;290:2564
    • (2003) JAMA , vol.290 , pp. 2564
    • Waisbren, S.E.1    Albers, S.2    Amato, S.3
  • 36
    • 33644649019 scopus 로고    scopus 로고
    • The high price of false positives
    • Howell RR: The high price of false positives. Mol Genet Metab 2006;87:180
    • (2006) Mol Genet Metab , vol.87 , pp. 180
    • Howell, R.R.1
  • 37
    • 10744226079 scopus 로고    scopus 로고
    • Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry
    • Lacey JM, Minutti CZ, Magera MJ, et al: Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem 2004;50:621
    • (2004) Clin Chem , vol.50 , pp. 621
    • Lacey, J.M.1    Minutti, C.Z.2    Magera, M.J.3
  • 38
    • 27644437938 scopus 로고    scopus 로고
    • Newborn screening for developmental disabilities: Reframing presumptive benefit
    • Bailey DB Jr., Skinner D, Warren SF: Newborn screening for developmental disabilities: Reframing presumptive benefit. Am J Public Health 2005;95:1889
    • (2005) Am J Public Health , vol.95 , pp. 1889
    • Bailey Jr., D.B.1    Skinner, D.2    Warren, S.F.3
  • 39
    • 33645034271 scopus 로고    scopus 로고
    • From public health emergency to public health service: The implications of evolving criteria for newborn screening panels
    • Grosse SD, Boyle CA, Kenneson A, et al: From public health emergency to public health service: The implications of evolving criteria for newborn screening panels. Pediatrics 2006;117:923
    • (2006) Pediatrics , vol.117 , pp. 923
    • Grosse, S.D.1    Boyle, C.A.2    Kenneson, A.3
  • 42
    • 31644441156 scopus 로고    scopus 로고
    • The knowledge gap in expanded newborn screening: Survey results from paediatricians in Massachusetts
    • Gennaccaro, M, Waisbren SE, Marsden D: The knowledge gap in expanded newborn screening: survey results from paediatricians in Massachusetts. J Inherit Metab Dis 2005;28:819
    • (2005) J Inherit Metab Dis , vol.28 , pp. 819
    • Gennaccaro, M.1    Waisbren, S.E.2    Marsden, D.3
  • 43
    • 33750954779 scopus 로고    scopus 로고
    • Primary care physicians' attitudes regarding follow-up care for children with positive newborn screening results
    • Kemper AR, Uren RL, Moseley KL, et al: Primary care physicians' attitudes regarding follow-up care for children with positive newborn screening results. Pediatrics 2006;118:1836
    • (2006) Pediatrics , vol.118 , pp. 1836
    • Kemper, A.R.1    Uren, R.L.2    Moseley, K.L.3
  • 45
    • 34249744297 scopus 로고    scopus 로고
    • Available at:, Accessed March 6, 2007
    • Pediatrix Screening, Newborn Screening. Available at: www.pediatrix.com/ body_screening.cfm?id=222&oTopID=94. Accessed March 6, 2007
    • Pediatrix Screening, Newborn Screening
  • 46
    • 34249680628 scopus 로고    scopus 로고
    • University of Colorado, Biochemical Genetics Laboratory, Available at:, Accessed March 6
    • University of Colorado, Biochemical Genetics Laboratory, Expanded Newborn Screening. Available at: www.uchsc.edu/newbornscreening/. Accessed March 6, 2007
    • (2007) Expanded Newborn Screening
  • 48
    • 13144253117 scopus 로고    scopus 로고
    • Neonatal screening by DNA microarray: Spots and chips
    • Green NS, Pass KA: Neonatal screening by DNA microarray: Spots and chips. Nat Rev Genet 2005;6:147
    • (2005) Nat Rev Genet , vol.6 , pp. 147
    • Green, N.S.1    Pass, K.A.2
  • 49
    • 33744830065 scopus 로고    scopus 로고
    • A vision of the future of newborn screening
    • Alexander D, van Dyck PC: A vision of the future of newborn screening. Pediatrics 2006;117:S350
    • (2006) Pediatrics , vol.117
    • Alexander, D.1    van Dyck, P.C.2
  • 50
    • 33746845210 scopus 로고    scopus 로고
    • Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: A new approach for newborn screening follow-up
    • Gardner P, Oltmaa E, Messner A, et al: Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. Pediatrics 2006;118:985
    • (2006) Pediatrics , vol.118 , pp. 985
    • Gardner, P.1    Oltmaa, E.2    Messner, A.3
  • 51
    • 25844445259 scopus 로고    scopus 로고
    • Newborn screening for cystic fibrosis in Wisconsin: Nine-year experience with routine trypsinogen/DNA testing
    • Rock MJ, Hoffman G, Laessig RH, et al: Newborn screening for cystic fibrosis in Wisconsin: Nine-year experience with routine trypsinogen/DNA testing. J Pediatr 2005; 147(3 Suppl):S73
    • (2005) J Pediatr , vol.147 , Issue.3 SUPPL.
    • Rock, M.J.1    Hoffman, G.2    Laessig, R.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.