메뉴 건너뛰기




Volumn 30, Issue 4, 2007, Pages 576-584

Quality performance of newborn screening systems: Strategies for improvement

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL LABORATORY; CLINICAL PROTOCOL; CONFERENCE PAPER; CONGENITAL ADRENAL HYPERPLASIA; CONGENITAL HYPOTHYROIDISM; CYSTIC FIBROSIS; DIAGNOSTIC VALUE; FAMILY COUNSELING; FOLLOW UP; HEALTH CARE ORGANIZATION; HEALTH CARE PERSONNEL; HEALTH PROGRAM; HUMAN; INBORN ERROR OF METABOLISM; LABORATORY DIAGNOSIS; MEDICAL EDUCATION; NEWBORN SCREENING; PHENYLKETONURIA; PRACTICE GUIDELINE; PUBLIC HEALTH; QUALITY CONTROL; SENSITIVITY AND SPECIFICITY; STANDARDIZATION;

EID: 34548485560     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0639-2     Document Type: Conference Paper
Times cited : (11)

References (89)
  • 1
    • 33745318070 scopus 로고    scopus 로고
    • Update of Newborn Screening and Therapy for Congenital Hypothyroidism. American Academy of Pediatrics Susan R Rose MD and the Section on Endocrinology and Committee on Genetics American Thyroid Association Rosalind S Brown MD and the Public Health Committee Lawson Wilkins Pediatric Endocrine Society
    • AAP
    • AAP (2006) Update of Newborn Screening and Therapy for Congenital Hypothyroidism. American Academy of Pediatrics Susan R Rose MD and the Section on Endocrinology and Committee on Genetics American Thyroid Association Rosalind S Brown MD and the Public Health Committee Lawson Wilkins Pediatric Endocrine Society. Pediatrics 117: 2290-2303.
    • (2006) Pediatrics , vol.117 , pp. 2290-2303
  • 3
    • 33747591403 scopus 로고    scopus 로고
    • Newborn screening: Toward a uniform panel and system
    • ACMG
    • ACMG (2006b) Newborn screening: Toward a uniform panel and system. Genet Med 8: 1s-252s.
    • (2006) Genet Med , vol.8
  • 4
    • 0033961921 scopus 로고    scopus 로고
    • Recoveries of phenylalanine from two sets of dried-blood-spot reference materials: Prediction from hematocrit, spot volume, and paper matrix
    • Adam BW, Alexander JR, Smith SJ, et al (2000) Recoveries of phenylalanine from two sets of dried-blood-spot reference materials: prediction from hematocrit, spot volume, and paper matrix. Clin Chem 46: 26-28.
    • (2000) Clin Chem , vol.46 , pp. 26-28
    • Adam, B.W.1    Alexander, J.R.2    Smith, S.J.3
  • 5
    • 33747864871 scopus 로고    scopus 로고
    • Task force handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders
    • Angelini C, Federico A, Reichmann H, Lombes A, Chinnery P, Turnbull D (2006) Task force handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders. Eur J Neurol 13: 923-929.
    • (2006) Eur J Neurol , vol.13 , pp. 923-929
    • Angelini, C.1    Federico, A.2    Reichmann, H.3    Lombes, A.4    Chinnery, P.5    Turnbull, D.6
  • 7
    • 0021846570 scopus 로고
    • Serum immunoreactive trypsin and pancreatic lipase in cystic fibrosis
    • Bollbach R, Becker M, Rotthauwe H (1985) Serum immunoreactive trypsin and pancreatic lipase in cystic fibrosis. EurJ Pediatr 144: 167-170.
    • (1985) EurJ Pediatr , vol.144 , pp. 167-170
    • Bollbach, R.1    Becker, M.2    Rotthauwe, H.3
  • 8
    • 34548506872 scopus 로고    scopus 로고
    • Definition of a 17OH-progesterone birth weight adjusted cut-off value using the autodelfia method version B015
    • Awaji/Tokoshima, Japan, Abstract WS23
    • Borrajo G, Pistaccio L, Gomez F, Di Carlo C, Castillo P, Dietz M (2006) Definition of a 17OH-progesterone birth weight adjusted cut-off value using the autodelfia method version B015. 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract WS23.
    • (2006) 6th ISNS International Meeting
    • Borrajo, G.1    Pistaccio, L.2    Gomez, F.3    Di Carlo, C.4    Castillo, P.5    Dietz, M.6
  • 9
    • 0038538418 scopus 로고    scopus 로고
    • Neonatal screening: Definitions and criteria. [In French]
    • Briard ML (2003) Neonatal screening: Definitions and criteria. [In French]. Arch Pediatr 10: 19s-21s.
    • (2003) Arch Pediatr , vol.10
    • Briard, M.L.1
  • 10
    • 33846023727 scopus 로고    scopus 로고
    • Universal newborn screening and adverse medical outcomes: A historical note
    • Brosco J, Seider M, Dunn A (2006) Universal newborn screening and adverse medical outcomes: A historical note. Ment Retard Dev Disabil Res Rev 12: 262-269.
    • (2006) Ment Retard Dev Disabil Res Rev , vol.12 , pp. 262-269
    • Brosco, J.1    Seider, M.2    Dunn, A.3
  • 13
    • 34548473448 scopus 로고    scopus 로고
    • CLSI Clinical and Laboratory Standards Institute
    • CLSI (2006) Newborn Screening Followup; Approved Guideline. Clinical and Laboratory Standards Institute. www.nccls.org.
    • (2006) Newborn Screening Followup; Approved Guideline
  • 14
    • 33947141892 scopus 로고    scopus 로고
    • Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation Workshop report
    • Como A, Accurso F, White T, et al (2007) Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation Workshop report. Pediatrics 119: E495-518.
    • (2007) Pediatrics , vol.119
    • Como, A.1    Accurso, F.2    White, T.3
  • 15
    • 34548494723 scopus 로고    scopus 로고
    • Minimising risk to newborns. A system to minimise the interval from specimen collection to test result in newborn screening; 24/7 testing and delivery by courier
    • Awaji/Tokoshima, Japan, Abstract P105
    • Copeland S, Berberich S, Valbrecht M, Piper K (2006) Minimising risk to newborns. A system to minimise the interval from specimen collection to test result in newborn screening; 24/7 testing and delivery by courier. 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract P105.
    • (2006) 6th ISNS International Meeting
    • Copeland, S.1    Berberich, S.2    Valbrecht, M.3    Piper, K.4
  • 16
    • 0030199734 scopus 로고    scopus 로고
    • Need for a standardized procedure in the preparation of phenylalanine calibrators
    • Dhondt JL, Paux E, Farriaux J (1996) Need for a standardized procedure in the preparation of phenylalanine calibrators. Early Hum Dev 45: 277-285.
    • (1996) Early Hum Dev , vol.45 , pp. 277-285
    • Dhondt, J.L.1    Paux, E.2    Farriaux, J.3
  • 17
    • 0031814460 scopus 로고    scopus 로고
    • Preparation of the first European working standard for phenylalanine determination in dried blood spots
    • Dhondt JL, Loeber G, Elvers LH, Paux E (1998) Preparation of the first European working standard for phenylalanine determination in dried blood spots. J Med Screen 5: 63-67.
    • (1998) J Med Screen , vol.5 , pp. 63-67
    • Dhondt, J.L.1    Loeber, G.2    Elvers, L.H.3    Paux, E.4
  • 18
    • 33745098400 scopus 로고    scopus 로고
    • 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry
    • [Report]
    • Dionisi-Vici C, Deodato F, Roschinger W, Rhead W, Wilcken B (2006) 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. [Report]. J Inherit Metab Dis 29: 383-389.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 383-389
    • Dionisi-Vici, C.1    Deodato, F.2    Roschinger, W.3    Rhead, W.4    Wilcken, B.5
  • 19
    • 0030570555 scopus 로고    scopus 로고
    • The need for standardized bloodspot TSH-calibrators in congenital hypothyroidism screening
    • Elvers LH, Loeber JG (1996) The need for standardized bloodspot TSH-calibrators in congenital hypothyroidism screening. Early Hum Dev 45: 179-190.
    • (1996) Early Hum Dev , vol.45 , pp. 179-190
    • Elvers, L.H.1    Loeber, J.G.2
  • 20
    • 34548507363 scopus 로고    scopus 로고
    • First ISNS reference preparation for neonatal screening for thyrotropin, phenylalanine and 17-alpha-hydroxyprogesterone in dried blood spots
    • Awaji/Tokoshima, Japan, Abstract P111
    • Elvers LH, Loeber G, Dhondt JL, et al (2006) First ISNS reference preparation for neonatal screening for thyrotropin, phenylalanine and 17-alpha-hydroxyprogesterone in dried blood spots. 16th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract P111.
    • (2006) 16th ISNS International Meeting
    • Elvers, L.H.1    Loeber, G.2    Dhondt, J.L.3
  • 21
    • 34548491922 scopus 로고    scopus 로고
    • First ISNS reference preparation for neonatal screening for thyrotropin, phenylalanine and 17α-hydroxyprogesterone in blood spots RIVM rapport 230011004
    • Rijksinstituut voor Volksgezondheid en Milieu, RIVM
    • Elvers LH, Loeber JG, Dhondt JL, et al (2005) First ISNS reference preparation for neonatal screening for thyrotropin, phenylalanine and 17α-hydroxyprogesterone in blood spots RIVM rapport 230011004. Rijksinstituut voor Volksgezondheid en Milieu, RIVM.
    • (2005)
    • Elvers, L.H.1    Loeber, J.G.2    Dhondt, J.L.3
  • 22
    • 0033383706 scopus 로고    scopus 로고
    • Revised guidelines for neonatal screening programmes for primary congenital hypothyroidism. Working Group on Neonatal Screening of the European Society for Paediatric Endocrinology
    • ESPE
    • ESPE (1999) Revised guidelines for neonatal screening programmes for primary congenital hypothyroidism. Working Group on Neonatal Screening of the European Society for Paediatric Endocrinology. Horm Res 52: 49-52.
    • (1999) Horm Res , vol.52 , pp. 49-52
  • 23
    • 0033030894 scopus 로고    scopus 로고
    • Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia
    • Fitness J, Dixit N, Webster D, et al (1999) Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 84: 960-966.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 960-966
    • Fitness, J.1    Dixit, N.2    Webster, D.3
  • 24
    • 0031134809 scopus 로고    scopus 로고
    • Infant metabolic screening: A total quality management approach
    • Forsberg SA (1997) Infant metabolic screening: A total quality management approach. J Obst Gynecol Neonatal Nurs 26: 257-261.
    • (1997) J Obst Gynecol Neonatal Nurs , vol.26 , pp. 257-261
    • Forsberg, S.A.1
  • 25
    • 34548501162 scopus 로고    scopus 로고
    • An international training and support programme for neonatal screening in developing countries
    • Awaji/Tokoshima, Japan, Abstract SY12
    • Fukushi M, Honma K, Yoshinaga M, et al (2006) An international training and support programme for neonatal screening in developing countries. 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract SY12.
    • (2006) 6th ISNS International Meeting
    • Fukushi, M.1    Honma, K.2    Yoshinaga, M.3
  • 26
    • 4544322158 scopus 로고    scopus 로고
    • Psychosocial aspects of genetic screening of pregnant women and newborns: A systematic review
    • Green J, Hewison J, Bekker M, Bryant L, Cuckle H (2004) Psychosocial aspects of genetic screening of pregnant women and newborns: A systematic review. Health Technol Assess 8: 57-68.
    • (2004) Health Technol Assess , vol.8 , pp. 57-68
    • Green, J.1    Hewison, J.2    Bekker, M.3    Bryant, L.4    Cuckle, H.5
  • 27
    • 0028293556 scopus 로고
    • Guidelines for neonatal screening programs for congenital hypothyroidism. European Society for Pediatric Endocrinology Working Group on Congenital Hypothyroidism
    • Gruters A, Delange F, Giovannelli G, et al (1994) Guidelines for neonatal screening programs for congenital hypothyroidism. European Society for Pediatric Endocrinology Working Group on Congenital Hypothyroidism. Horm Res 41, 1-2.
    • (1994) Horm Res , vol.41 , pp. 1-2
    • Gruters, A.1    Delange, F.2    Giovannelli, G.3
  • 28
    • 0026298415 scopus 로고
    • The international quality assurance program (IRTIQAS) for the assay of immunoreactive trypsin in dried blood spots
    • Heeley ME, Travert G, Ferre C, Lemonnier F (1991) The international quality assurance program (IRTIQAS) for the assay of immunoreactive trypsin in dried blood spots. Pediatr Pulmonol Supplement 7: 72-75.
    • (1991) Pediatr Pulmonol Supplement , vol.7 , pp. 72-75
    • Heeley, M.E.1    Travert, G.2    Ferre, C.3    Lemonnier, F.4
  • 30
    • 34548481181 scopus 로고    scopus 로고
    • HGSA Alexandria, VIC: Human Genetics Society of Australasia
    • HGSA (2004) Policy Statement: Newborn Screening. Alexandria, VIC: Human Genetics Society of Australasia. www.hgsa.com.au.
    • (2004) Policy Statement: Newborn Screening
  • 31
    • 33745321363 scopus 로고    scopus 로고
    • Practices and perceptions of long-term follow-up among state newborn screening programs
    • Hoff T, Hoyt A (2006) Practices and perceptions of long-term follow-up among state newborn screening programs. Pediatrics 117, 1922-1929.
    • (2006) Pediatrics , vol.117 , pp. 1922-1929
    • Hoff, T.1    Hoyt, A.2
  • 32
    • 33748742728 scopus 로고    scopus 로고
    • Exploring barriers to long-term follow-up in newborn screening programs
    • Hoff T, Hoyt A, Therrell B, Ayoob M (2006) Exploring barriers to long-term follow-up in newborn screening programs. Genet Med 8: 563-570.
    • (2006) Genet Med , vol.8 , pp. 563-570
    • Hoff, T.1    Hoyt, A.2    Therrell, B.3    Ayoob, M.4
  • 33
    • 0022506692 scopus 로고
    • Descriptive epidemiology of missed cases of PKU and congenital hypothyroidism
    • Holzman C, Slazyk W, Codero J, Hannon H (1986) Descriptive epidemiology of missed cases of PKU and congenital hypothyroidism. Pediatrics 78 (4): 553-558.
    • (1986) Pediatrics , vol.78 , Issue.4 , pp. 553-558
    • Holzman, C.1    Slazyk, W.2    Codero, J.3    Hannon, H.4
  • 34
    • 34548513169 scopus 로고    scopus 로고
    • Improving the positive predictive value in newborn screening for congenital adrenal hyperplasia
    • Awaji/Tokoshima, Japan, Abstract P30
    • Honma K, Yoshinaga M, Ota N, et al (2006) Improving the positive predictive value in newborn screening for congenital adrenal hyperplasia. 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract P30.
    • (2006) 6th ISNS International Meeting
    • Honma, K.1    Yoshinaga, M.2    Ota, N.3
  • 36
    • 33845905743 scopus 로고    scopus 로고
    • ISNS Wentworthville, NSW International Society for Neonatal Screening
    • ISNS (2005) Lexicon of Terms to be Used in Newborn Screening. Wentworthville, NSW International Society for Neonatal Screening. www.isns-neoscreening.org/pdf/Lexicon8.pdf.
    • (2005) Lexicon of Terms to Be Used in Newborn Screening
  • 37
    • 34548505134 scopus 로고    scopus 로고
    • ISNS Website
    • ISNS (2007) Website. www.isns-neoscreening.org.
    • (2007)
  • 38
    • 33746906274 scopus 로고    scopus 로고
    • Improvement in screening performance and diagnosis of congenital hypothyroidism in Scotland 1979-2003
    • Jones JH, Mackenzie J, Croft GA, Beaton S, Young D, Donaldson MD (2006) Improvement in screening performance and diagnosis of congenital hypothyroidism in Scotland 1979-2003. Arch Dis Child 91, 680-685.
    • (2006) Arch Dis Child , vol.91 , pp. 680-685
    • Jones, J.H.1    Mackenzie, J.2    Croft, G.A.3    Beaton, S.4    Young, D.5    Donaldson, M.D.6
  • 39
    • 33749073859 scopus 로고    scopus 로고
    • Introduction to the newborn screening fact sheets
    • Kaye CI, Accurso F, La Franchi S, et al (2006) Introduction to the newborn screening fact sheets. Pediatrics 118: 1304-1312.
    • (2006) Pediatrics , vol.118 , pp. 1304-1312
    • Kaye, C.I.1    Accurso, F.2    La Franchi, S.3
  • 40
    • 33947528603 scopus 로고    scopus 로고
    • Neonatal screening for congenital hypothyroidism in the netherlands: Cognitive and motor outcome at 10 years of age
    • Kempers M, van der Sluijs Veer E, Nijhuis-van der Sanden R, et al (2007) Neonatal screening for congenital hypothyroidism in the netherlands: cognitive and motor outcome at 10 years of age. J Clin Endocrinol Metab 92: 919-924.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 919-924
    • Kempers, M.1    van der Sluijs Veer, E.2    Nijhuis-van der Sanden, R.3
  • 41
    • 33745287756 scopus 로고    scopus 로고
    • Development and characterization of dried blood spot materials for the measurement of immunoreactive trypsinogen
    • Li L, Zhou Y, Bell CJ, Earley MC, Hannon WH, Mei JV (2006) Development and characterization of dried blood spot materials for the measurement of immunoreactive trypsinogen. J Med Screen 13, 79-84.
    • (2006) J Med Screen , vol.13 , pp. 79-84
    • Li, L.1    Zhou, Y.2    Bell, C.J.3    Earley, M.C.4    Hannon, W.H.5    Mei, J.V.6
  • 43
    • 0033451920 scopus 로고    scopus 로고
    • Quality evaluation of newborn screening programs
    • Loeber G, Webster D, Aznarez A (1999) Quality evaluation of newborn screening programs. Acta Paediatr Suppl 88: 3-6.
    • (1999) Acta Paediatr , vol.88 , Issue.SUPPL. , pp. 3-6
    • Loeber, G.1    Webster, D.2    Aznarez, A.3
  • 45
    • 3442878589 scopus 로고    scopus 로고
    • Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.[see comment]
    • Minutti CZ, Lacey JM, Magera MJ, et al (2004) Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.[see comment]. J Clin Endocrinol Metab 89: 3687-3693.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 3687-3693
    • Minutti, C.Z.1    Lacey, J.M.2    Magera, M.J.3
  • 49
    • 33847081531 scopus 로고    scopus 로고
    • Development of a newborn screening followup algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency
    • Oglesbee D, He M, Majumder N, et al (2007) Development of a newborn screening followup algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med 9: 108-116.
    • (2007) Genet Med , vol.9 , pp. 108-116
    • Oglesbee, D.1    He, M.2    Majumder, N.3
  • 50
    • 0346732365 scopus 로고    scopus 로고
    • Screening for congenital adrenal hyperplasia: Adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value
    • Olgemoller B, Roscher A, Adelbert A, Liebl B, Fingerhut R (2003) Screening for congenital adrenal hyperplasia: Adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value. J Clin Endocrinol Metab 88: 5790-5794.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 5790-5794
    • Olgemoller, B.1    Roscher, A.2    Adelbert, A.3    Liebl, B.4    Fingerhut, R.5
  • 51
    • 34548476361 scopus 로고    scopus 로고
    • Comparison of tandem mass spectrometry (MS/MS) with colorimetric test in newborn screening for phenylketonuria discrimination power and cut-off values
    • Awaji/Tokoshima, Japan, Abstract P33
    • Oltarzewski M, Jablonska E, Nowacka M, Radomyska B (2006) Comparison of tandem mass spectrometry (MS/MS) with colorimetric test in newborn screening for phenylketonuria discrimination power and cut-off values. 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract P33.
    • (2006) 6th ISNS International Meeting
    • Oltarzewski, M.1    Jablonska, E.2    Nowacka, M.3    Radomyska, B.4
  • 52
    • 0345191119 scopus 로고
    • Pass K, Levy H, eds Atlanta GA: Council of Regional Networks for Genetic Services
    • Pass K, Levy H, eds (1995) Early Hospital Discharge: Impact on Newborn Screening. Atlanta GA: Council of Regional Networks for Genetic Services.
    • (1995) Early Hospital Discharge: Impact on Newborn Screening
  • 53
    • 33746621197 scopus 로고    scopus 로고
    • Newborn screening policy in the United Kingdom, the United States: Two different communities of practice. [Review] [22 refs]
    • Patch C (2006) Newborn screening policy in the United Kingdom, the United States: Two different communities of practice. [Review] [22 refs]. MCN, Am J Maternal Child Nurs 31: 164-168.
    • (2006) MCN, Am J Maternal Child Nurs , vol.31 , pp. 164-168
    • Patch, C.1
  • 54
    • 34548492372 scopus 로고    scopus 로고
    • Auckland Healthcare Services Limited Health and Disability Commisioner's Report on Opinion Case 99hdc09011
    • Paterson R (1999) Auckland Healthcare Services Limited Health and Disability Commisioner's Report on Opinion Case 99hdc09011.
    • (1999)
    • Paterson, R.1
  • 55
    • 34548505617 scopus 로고    scopus 로고
    • Sensitivity, specificity and the 'ethnic question': Controversies surrounding CF screening in the UK 6th ISNS International Meeting
    • Awaji/Tokoshima, Japan, Abstract WS16
    • Pollitt R (2006a) Sensitivity, specificity and the 'ethnic question': controversies surrounding CF screening in the UK 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract WS16.
    • (2006)
    • Pollitt, R.1
  • 56
    • 34548496792 scopus 로고    scopus 로고
    • Newborn screening policies in the UK: Progress and problems
    • Awaji/Tokoshima, Japan, Abstract SY19
    • Pollitt RJ (2006b) Newborn screening policies in the UK: Progress and problems. 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract SY19.
    • (2006) 6th ISNS International Meeting
    • Pollitt, R.J.1
  • 57
    • 33745095968 scopus 로고    scopus 로고
    • International perspectives on newborn screening
    • Pollitt R (2006c) International perspectives on newborn screening. J Inherit Metabc Dis 29: 390-396.
    • (2006) J Inherit Metabc Dis , vol.29 , pp. 390-396
    • Pollitt, R.1
  • 58
    • 34548507103 scopus 로고    scopus 로고
    • Population centile-centile plots for monitoring assay performance
    • Awaji/Tokoshima, Japan, Abstract P110
    • Pollitt R, Matthews A (2006) Population centile-centile plots for monitoring assay performance. 6th ISNS International Meeting, Awaji/ Tokoshima, Japan, Abstract P110.
    • (2006) 6th ISNS International Meeting
    • Pollitt, R.1    Matthews, A.2
  • 59
    • 0031402353 scopus 로고    scopus 로고
    • Neonatal screening for cystic fibrosis in the Trent region (UK): Two-stage immunoreactive trypsin screening compared with a three-stage protocol with DNA analysis as an intermediate step
    • Pollitt RJ, Dalton A, Evans S, Hughes HN, Curtis D (1997) Neonatal screening for cystic fibrosis in the Trent region (UK): Two-stage immunoreactive trypsin screening compared with a three-stage protocol with DNA analysis as an intermediate step. J Med Screen 4: 23-28.
    • (1997) J Med Screen , vol.4 , pp. 23-28
    • Pollitt, R.J.1    Dalton, A.2    Evans, S.3    Hughes, H.N.4    Curtis, D.5
  • 61
    • 34548472082 scopus 로고    scopus 로고
    • Newborn screening of metabolic disorders by tandem mass spectrometry: The impact of performance on the cost-benefit equation
    • Awaji/Tokoshima, Japan, Abstract PL5
    • Rinaldo P, Safari S, Tortorelli S, Matern D (2006a) Newborn screening of metabolic disorders by tandem mass spectrometry: The impact of performance on the cost-benefit equation. 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract PL5.
    • (2006) 6th ISNS International Meeting
    • Rinaldo, P.1    Safari, S.2    Tortorelli, S.3    Matern, D.4
  • 62
    • 34548500229 scopus 로고    scopus 로고
    • Improved specificity of newborn screening for congenital adrenal hyperplasia by steroid profiling using tandem mass spectrometry
    • Awaji/Tokoshima, Japan, Abstract WS17
    • Rinaldo P, Tortorelli S, Matern D (2006b) Improved specificity of newborn screening for congenital adrenal hyperplasia by steroid profiling using tandem mass spectrometry. 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract WS17.
    • (2006) 6th ISNS International Meeting
    • Rinaldo, P.1    Tortorelli, S.2    Matern, D.3
  • 63
    • 34548475658 scopus 로고    scopus 로고
    • Neonatal Screening (NNS) of CF: Diagnostic problems with CFTR mild mutations
    • Awaji/Tokoshima, Japan, Abstract P74
    • Roussey M, Le Bihannic A, Audrezet M, et al (2006) Neonatal Screening (NNS) of CF: Diagnostic problems with CFTR mild mutations. 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract P74.
    • (2006) 6th ISNS International Meeting
    • Roussey, M.1    Le Bihannic, A.2    Audrezet, M.3
  • 64
    • 0037232591 scopus 로고    scopus 로고
    • Congenital hypothyroidism: A review of current diagnostic and treatment practices in relation to neuropsychologic outcome
    • [Review] [96 refs]
    • Rovet J, Daneman D (2003) Congenital hypothyroidism: A review of current diagnostic and treatment practices in relation to neuropsychologic outcome. [Review] [96 refs]. Paediatr Drugs 5: 141-149.
    • (2003) Paediatr Drugs , vol.5 , pp. 141-149
    • Rovet, J.1    Daneman, D.2
  • 65
    • 33746114888 scopus 로고    scopus 로고
    • Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry
    • Schymik I, Liebig M, Mueller M, et al (2006) Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J Pediatr 149: 128-130.
    • (2006) J Pediatr , vol.149 , pp. 128-130
    • Schymik, I.1    Liebig, M.2    Mueller, M.3
  • 66
    • 33646541977 scopus 로고    scopus 로고
    • A Scottish study of heel-prick blood sampling in newborn babies
    • Shepherd AJ, Glenesk A, Niven CA, Mackenzie J (2006) A Scottish study of heel-prick blood sampling in newborn babies. Midwifery 22: 158-168.
    • (2006) Midwifery , vol.22 , pp. 158-168
    • Shepherd, A.J.1    Glenesk, A.2    Niven, C.A.3    Mackenzie, J.4
  • 67
    • 34548504681 scopus 로고    scopus 로고
    • California newborn screening for congenital adrenal hyperplasia using two tier test system with birthweight adjusted cutoffs for improved precision
    • Awaji/Tokoshima, Japan, Abstract SY3
    • Sherwin J, She J, Bhandal A (2006) California newborn screening for congenital adrenal hyperplasia using two tier test system with birthweight adjusted cutoffs for improved precision. 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract SY3.
    • (2006) 6th ISNS International Meeting
    • Sherwin, J.1    She, J.2    Bhandal, A.3
  • 70
    • 34548492618 scopus 로고    scopus 로고
    • Second tier testing for the differential diagnosis of short-chain acyl-CoA dehydrogenase deficiency, isobutyryl-CoA dehydrogenase deficiency, isovaleric acidemia and 2-methylbutyryl-CoA dehydrogenase deficiency
    • Awaji/Tokoshima, Japan, Abstract P7
    • Sweetman L, Forni S, Alvarado L, Roe D, Fu X, Roe C (2006) Second tier testing for the differential diagnosis of short-chain acyl-CoA dehydrogenase deficiency, isobutyryl-CoA dehydrogenase deficiency, isovaleric acidemia and 2-methylbutyryl-CoA dehydrogenase deficiency. 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract P7.
    • (2006) 6th ISNS International Meeting
    • Sweetman, L.1    Forni, S.2    Alvarado, L.3    Roe, D.4    Fu, X.5    Roe, C.6
  • 72
    • 33846005515 scopus 로고    scopus 로고
    • National Evaluation of newborn screening system components
    • Therrell B, Hannon H (2006) National Evaluation of newborn screening system components. Ment Retard Dev Disabil Res Rev 12: 236-245.
    • (2006) Ment Retard Dev Disabil Res Rev , vol.12 , pp. 236-245
    • Therrell, B.1    Hannon, H.2
  • 73
    • 38249015730 scopus 로고
    • US Newborn Screening System Guidelines: Statement of the Council of Regional Networks for Genetic Services
    • Therrell B, Panny S, Davidson A, et al (1992) US Newborn Screening System Guidelines: Statement of the Council of Regional Networks for Genetic Services. Screening 1: 135-149.
    • (1992) Screening , vol.1 , pp. 135-149
    • Therrell, B.1    Panny, S.2    Davidson, A.3
  • 74
    • 15844396182 scopus 로고    scopus 로고
    • Guidelines for the Retention Storage and Use of Residual Dried Blood Spot Samples after Newborn Screening Analysis: Statement of the Council of Regional Networks for Genetic Services
    • Therrell B, Hannon H, Pass K, et al (1996) Guidelines for the Retention Storage and Use of Residual Dried Blood Spot Samples after Newborn Screening Analysis: Statement of the Council of Regional Networks for Genetic Services. Biochemistry Mol Med 57, 116-124.
    • (1996) Biochemistry Mol Med , vol.57 , pp. 116-124
    • Therrell, B.1    Hannon, H.2    Pass, K.3
  • 75
    • 0028142353 scopus 로고
    • Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: A threshold effect
    • Tillotson SL, Fuggle PW, Smith I, Ades AE, Grant DB (1994) Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: A threshold effect. Br Med J 309: 440-445.
    • (1994) Br Med J , vol.309 , pp. 440-445
    • Tillotson, S.L.1    Fuggle, P.W.2    Smith, I.3    Ades, A.E.4    Grant, D.B.5
  • 76
    • 0347950964 scopus 로고    scopus 로고
    • Quality control requirements in neonatal screening
    • Torresani T (2003) Quality control requirements in neonatal screening. Eur J Pediatr 162: S54-56.
    • (2003) Eur J Pediatr , vol.162
    • Torresani, T.1
  • 78
    • 33646542883 scopus 로고    scopus 로고
    • UK UK Newborn Screening Programme Centre. London: Department of Health
    • UK (2005) Newborn blood spot screening in the UK Policies and Standards. UK Newborn Screening Programme Centre. London: Department of Health. www.newbornscreening-bloodspot.org.uk.
    • (2005) Newborn Blood Spot Screening in the UK Policies and Standards
  • 80
    • 0030869258 scopus 로고    scopus 로고
    • Receiver operatoing characteristic plots to evaluate Guthrie Wallac and Isolab phenylalanine kit performance for newborn phenylketonuria screening
    • Wang S, Pizzolato S, Demshar H (1997) Receiver operatoing characteristic plots to evaluate Guthrie Wallac and Isolab phenylalanine kit performance for newborn phenylketonuria screening. Clin Chem 43: 1838-1842.
    • (1997) Clin Chem , vol.43 , pp. 1838-1842
    • Wang, S.1    Pizzolato, S.2    Demshar, H.3
  • 82
    • 34548514942 scopus 로고    scopus 로고
    • Quality control of the materials and reagents for neonatal screening in Japan
    • Awaji/Tokoshima, Japan, Abstract P114
    • Watanabe N, Suzuki E, Ikegami M, et al (2006) Quality control of the materials and reagents for neonatal screening in Japan. 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract P114.
    • (2006) 6th ISNS International Meeting
    • Watanabe, N.1    Suzuki, E.2    Ikegami, M.3
  • 83
    • 0033405714 scopus 로고    scopus 로고
    • Quality assurance and standardization: Summary of the satellite meeting Turku Finland, 11-12 June 1999
    • Webster D, Dhondt JL, Hannon WH, Loeber G, Torresani T (1999) Quality assurance and standardization: Summary of the satellite meeting Turku Finland, 11-12 June 1999. Acta Paediatr Suppl 88: 7-12.
    • (1999) Acta Paediatr , vol.88 , Issue.SUPPL. , pp. 7-12
    • Webster, D.1    Dhondt, J.L.2    Hannon, W.H.3    Loeber, G.4    Torresani, T.5
  • 84
    • 33745075959 scopus 로고    scopus 로고
    • Mini-Symposium: Newborn screening for inborn errors of metabolism - Clinical effectiveness
    • Wilcken B (2006a) Mini-Symposium: Newborn screening for inborn errors of metabolism - Clinical effectiveness. J Inherit Metab Dis 29, 366-369.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 366-369
    • Wilcken, B.1
  • 85
    • 34548478224 scopus 로고    scopus 로고
    • Newborn screening by tandem mass spectrometry assessing the benefits
    • Awaji/Tokoshima, Japan, Abstract SY22
    • Wilcken B (2006b) Newborn screening by tandem mass spectrometry assessing the benefits. 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract SY22.
    • (2006) 6th ISNS International Meeting
    • Wilcken, B.1
  • 86
    • 0029558007 scopus 로고
    • Neonatal screening for cystic fibrosis: A comparison of two strategies for case detection in 1.2 million babies
    • Wilcken B, Wiley V, Sherry G, Bayliss U (1995) Neonatal screening for cystic fibrosis: A comparison of two strategies for case detection in 1.2 million babies. J Pediatr 127: 965-970.
    • (1995) J Pediatr , vol.127 , pp. 965-970
    • Wilcken, B.1    Wiley, V.2    Sherry, G.3    Bayliss, U.4
  • 87
    • 34548503518 scopus 로고    scopus 로고
    • Detection of inborn errors of metabolism in newborns using tandem mass spectrometry - Lessons learned
    • Awaji/Tokoshima, Japan, Abstract P141
    • Wiley V, Carpenter K, Wilcken B (2006a) Detection of inborn errors of metabolism in newborns using tandem mass spectrometry - Lessons learned. 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract P141.
    • (2006) 6th ISNS International Meeting
    • Wiley, V.1    Carpenter, K.2    Wilcken, B.3
  • 88
    • 34548480046 scopus 로고    scopus 로고
    • Non-ketotic hyperglycinaemia is usually not detectable by tandem mass spectrometry newborn screening
    • Awaji/Tokoshima, Japan, Abstract P90
    • Wiley V, Tan E, Wilcken B (2006b) Non-ketotic hyperglycinaemia is usually not detectable by tandem mass spectrometry newborn screening. 16th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract P90.
    • (2006) 16th ISNS International Meeting
    • Wiley, V.1    Tan, E.2    Wilcken, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.