-
1
-
-
33745318070
-
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
-
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
-
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
-
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
-
6
-
-
33947625937
-
Newborn screening may fail to identify intermediate forms of maple syrup urine disease
-
Bhattacharya K, Khalili V, Wiley V, Carpenter K, Wilcken B (2006) Newborn screening may fail to identify intermediate forms of maple syrup urine disease. J Inherit Metab Dis 29: 586.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 586
-
-
Bhattacharya, K.1
Khalili, V.2
Wiley, V.3
Carpenter, K.4
Wilcken, B.5
-
7
-
-
0021846570
-
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
-
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
-
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
-
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
-
12
-
-
20844459628
-
Quality assurance program for neonatal screening of glucose-6-phosphate dehydrogenase deficiency
-
Chiang SH, Wu KF, Liu TT, Wu SJ, Hsiao KJ (2003) Quality assurance program for neonatal screening of glucose-6-phosphate dehydrogenase deficiency. Southeast Asian J Trop Med Public Health 34: 130-134.
-
(2003)
Southeast Asian J Trop Med Public Health
, vol.34
, pp. 130-134
-
-
Chiang, S.H.1
Wu, K.F.2
Liu, T.T.3
Wu, S.J.4
Hsiao, K.J.5
-
13
-
-
34548473448
-
-
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
-
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
-
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
-
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
-
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
-
'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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
-
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
-
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
-
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
-
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
-
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
-
-
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
-
-
ISNS Website
-
ISNS (2007) Website. www.isns-neoscreening.org.
-
(2007)
-
-
-
38
-
-
33746906274
-
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
-
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
-
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
-
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
-
42
-
-
33745111909
-
Neonatal screening for glutaric aciduria type I: Strategies to proceed
-
Lindner M, Ho S, Fang-Hoffman J, Hoffmann G, Kolker S (2006) Neonatal screening for glutaric aciduria type I: Strategies to proceed. J Inherit Metab Dis 29, 378-382.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 378-382
-
-
Lindner, M.1
Ho, S.2
Fang-Hoffman, J.3
Hoffmann, G.4
Kolker, S.5
-
43
-
-
0033451920
-
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
-
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
-
48
-
-
34548475659
-
-
Awaji/Tokoshima, Japan, Abstract P88
-
Oglesbee D, Lacey J, Spolar C, et al (2006) Newborn screening for MSUD: increased specificity by addition of 2nd-tier assay for allo-isoleucine by LC-MS/MS 16th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract P88.
-
(2006)
Newborn Screening for MSUD: Increased Specificity By Addition of 2nd-tier Assay for Allo-isoleucine By LC-MS/MS 16th ISNS International Meeting
-
-
Oglesbee, D.1
Lacey, J.2
Spolar, C.3
-
49
-
-
33847081531
-
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
-
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
-
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
-
-
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
-
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
-
-
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
-
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
-
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
-
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
-
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
-
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
-
60
-
-
34548472968
-
Succinylacetone assay in dried blood on filter paper
-
Awaji/Tokoshima, Japan, Abstract P60
-
Raimann E, Valiente A, Soto V, Cabello F, Cornejo V (2006) Succinylacetone assay in dried blood on filter paper. 6th ISNS International Meeting, Awaji/Tokoshima, Japan, Abstract P60.
-
(2006)
6th ISNS International Meeting
-
-
Raimann, E.1
Valiente, A.2
Soto, V.3
Cabello, F.4
Cornejo, V.5
-
61
-
-
34548472082
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
68
-
-
33751056720
-
Variant maple syrup urine disease (MSUD) - The entire spectrum
-
Simon E, Flaschker N, Schadewaldt P, Langenbeck U, Wendel U (2006) Variant maple syrup urine disease (MSUD) - The entire spectrum. J Inherit Metab Dis 29: 716-724.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 716-724
-
-
Simon, E.1
Flaschker, N.2
Schadewaldt, P.3
Langenbeck, U.4
Wendel, U.5
-
70
-
-
34548492618
-
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
-
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
-
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
-
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
-
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
-
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
-
-
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
-
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
-
81
-
-
20844449863
-
Development of a newborn screening laboratory quality assurance system in Shandong China
-
Wang W, Chen X, Zang J, He Y, Zhang P, Shen F (2003) Development of a newborn screening laboratory quality assurance system in Shandong China. Southeast Asian J Trop Med Public Health 34: 36-38.
-
(2003)
Southeast Asian J Trop Med Public Health
, vol.34
, pp. 36-38
-
-
Wang, W.1
Chen, X.2
Zang, J.3
He, Y.4
Zhang, P.5
Shen, F.6
-
82
-
-
34548514942
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|