-
1
-
-
34548508552
-
-
Alberta Health and Wellness Edmonton: Provincial Health Office, Public Health Divison
-
Alberta Health and Wellness (2006) Newborn metabolic screening in Alberta 2002-2005. Edmonton: Provincial Health Office, Public Health Divison.
-
(2006)
Newborn Metabolic Screening in Alberta 2002-2005
-
-
-
2
-
-
0033844765
-
Serving the family from birth to the medical home - Newborn screening: A blueprint for the future
-
American Academy of Pediatrics, Newborn Screening Task Force
-
American Academy of Pediatrics, Newborn Screening Task Force (2000) Serving the family from birth to the medical home - Newborn screening: A blueprint for the future. Pediatrics 106(suppl): 383-427.
-
(2000)
Pediatrics
, vol.106
, Issue.SUPPL.
, pp. 383-427
-
-
-
3
-
-
0038624107
-
Ethical issues with genetic testing in pediatrics
-
American Academy of Pediatrics, Committee on Bioethics
-
American Academy of Pediatrics, Committee on Bioethics (2001) Ethical issues with genetic testing in pediatrics. Pediatrics 107: 1451-1455.
-
(2001)
Pediatrics
, vol.107
, pp. 1451-1455
-
-
-
4
-
-
33747591403
-
Newborn screening: Toward a uniform screening panel and system
-
American College of Medical Genetics, Newborn Screening Working Group
-
American College of Medical Genetics, Newborn Screening Working Group (2006) Newborn screening: Toward a uniform screening panel and system. Genetics in Medicine 8(suppl): 1S-252S.
-
(2006)
Genetics in Medicine
, vol.8
, Issue.SUPPL.
-
-
-
5
-
-
33646053796
-
Genetic/metabolic health care delivery during and after hurricanes Katrina and Rita
-
Andersson HC, Narumanchi TC, Cunningham A, Bowdish B, Thoene J (2006) Genetic/metabolic health care delivery during and after hurricanes Katrina and Rita. Molec Genet Metabol 88: 3-6.
-
(2006)
Molec Genet Metabol
, vol.88
, pp. 3-6
-
-
Andersson, H.C.1
Narumanchi, T.C.2
Cunningham, A.3
Bowdish, B.4
Thoene, J.5
-
7
-
-
0042420653
-
Newborn urine screening programme in the province of Quebec: An update of 30 years' experience
-
Auray-Blais C, Giguere R, Lemieux B (2003) Newborn urine screening programme in the province of Quebec: An update of 30 years' experience. J Inherit Metab Dis 26: 393-402.
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 393-402
-
-
Auray-Blais, C.1
Giguere, R.2
Lemieux, B.3
-
8
-
-
33646853843
-
Newborn screening technology: Proceed with caution
-
Botkin JR, Clayton EW, Fost NC, et al (2006) Newborn screening technology: Proceed with caution. Pediatrics 117: 1793-1799.
-
(2006)
Pediatrics
, vol.117
, pp. 1793-1799
-
-
Botkin, J.R.1
Clayton, E.W.2
Fost, N.C.3
-
9
-
-
34548514563
-
Newborn hearing screening programs - A truly Canadian perspective
-
Brown DK, Dort JC, Sauve R (2001) Newborn hearing screening programs - a truly Canadian perspective. J Speech-Lang Pathol Audiol 24: 48-58.
-
(2001)
J Speech-Lang Pathol Audiol
, vol.24
, pp. 48-58
-
-
Brown, D.K.1
Dort, J.C.2
Sauve, R.3
-
11
-
-
0043062874
-
Prospective assessment in newborns of diabetes autoimmunity (PANDA): Maternal understanding of infant diabetes risk
-
Carmichael SK, Johnson SB, Baughcum A, et al (2003) Prospective assessment in newborns of diabetes autoimmunity (PANDA): Maternal understanding of infant diabetes risk. Genetics in Medicine 5: 77-83.
-
(2003)
Genetics in Medicine
, vol.5
, pp. 77-83
-
-
Carmichael, S.K.1
Johnson, S.B.2
Baughcum, A.3
-
12
-
-
0011136546
-
Neonatal screening for inborn errors of metabolism by automated dynamic liquid secondary ion tandem mass spectrometry
-
In Farriaux J-P, Dhondt J-L eds. Amsterdam: Elsevier Science Publishers
-
Chace DH, Millington DS (1994) Neonatal screening for inborn errors of metabolism by automated dynamic liquid secondary ion tandem mass spectrometry. In Farriaux J-P, Dhondt J-L eds. New Horizons in Neonatal Screening. Amsterdam: Elsevier Science Publishers 373-376.
-
(1994)
New Horizons in Neonatal Screening
, pp. 373-376
-
-
Chace, D.H.1
Millington, D.S.2
-
13
-
-
0027395318
-
Rapid diagnosis of phenylketonuria by quantitative analysis for phenylketonuria and tyrosine in neonatal blood spots by tandem mass spectrometry
-
Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Hofman LF (1993) Rapid diagnosis of phenylketonuria by quantitative analysis for phenylketonuria and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem 39: 66-71.
-
(1993)
Clin Chem
, vol.39
, pp. 66-71
-
-
Chace, D.H.1
Millington, D.S.2
Terada, N.3
Kahler, S.G.4
Roe, C.R.5
Hofman, L.F.6
-
14
-
-
13444301418
-
Development of population-based newborn screening for severe combined immunodeficiency
-
Chan K, Puck JM (2005) Development of population-based newborn screening for severe combined immunodeficiency. J Allerg Clin Immunol 115: 391-398.
-
(2005)
J Allerg Clin Immunol
, vol.115
, pp. 391-398
-
-
Chan, K.1
Puck, J.M.2
-
15
-
-
0014439113
-
Results of mass screening for hyperaminoacidemias in the newborn infant
-
Clow C, Scriver CR, Davies E (1969) Results of mass screening for hyperaminoacidemias in the newborn infant. Amer J Dis Child 117: 48-53.
-
(1969)
Amer J Dis Child
, vol.117
, pp. 48-53
-
-
Clow, C.1
Scriver, C.R.2
Davies, E.3
-
16
-
-
0026769391
-
Detection of HIV in specimens from newborn screening programs
-
Comeau AM, Hsu HW, Schwerzler M, Mushinsky G, Grady GF (1992) Detection of HIV in specimens from newborn screening programs. N Engl J Med 326: 1703.
-
(1992)
N Engl J Med
, vol.326
, pp. 1703
-
-
Comeau, A.M.1
Hsu, H.W.2
Schwerzler, M.3
Mushinsky, G.4
Grady, G.F.5
-
17
-
-
34548513662
-
-
Department of Health and Human Services Washington, D.C.: U.S. Department of Health and Human Services, DHHS Publication No. (HSA)
-
Department of Health and Human Services (1980) State Laws and Regulations on Genetic Disorders. Washington, D.C.: U.S. Department of Health and Human Services, DHHS Publication No. (HSA) 81-5243.
-
(1980)
State Laws and Regulations on Genetic Disorders
, pp. 81-5243
-
-
-
18
-
-
0026533582
-
Genotypic confirmation from original dried blood specimens in a neonatal hemoglobinopathy screening program
-
Descartes M, Huang Y, Zhang YH, et al (1992) Genotypic confirmation from original dried blood specimens in a neonatal hemoglobinopathy screening program. Pediatr Res 31: 217-221.
-
(1992)
Pediatr Res
, vol.31
, pp. 217-221
-
-
Descartes, M.1
Huang, Y.2
Zhang, Y.H.3
-
19
-
-
0015808415
-
Thyroxine (T4) determination in dried blood by radioimmunoassay: A screening method for neonatal hypothyroidism
-
Dussault JH, Laberge C (1973) Thyroxine (T4) determination in dried blood by radioimmunoassay: A screening method for neonatal hypothyroidism. Union Med Can 102: 2062-2064.
-
(1973)
Union Med Can
, vol.102
, pp. 2062-2064
-
-
Dussault, J.H.1
Laberge, C.2
-
20
-
-
0016795170
-
Preliminatry report on a mass screening program for neonatal hypothyroidism
-
Dussasult JH, Coulomb P, Laberge C, Letarte J, Guyda H, Khoury K (1975) Preliminatry report on a mass screening program for neonatal hypothyroidism. J Pediatr 86: 670-674.
-
(1975)
J Pediatr
, vol.86
, pp. 670-674
-
-
Dussasult, J.H.1
Coulomb, P.2
Laberge, C.3
Letarte, J.4
Guyda, H.5
Khoury, K.6
-
21
-
-
0017097544
-
TSH measurements from blood spots on filter paper. A confirmatory screening test for neonatal hypothyroidism
-
Dussault JH, Parlow A, Letarte J, Guyda H, Laberge C (1976) TSH measurements from blood spots on filter paper. A confirmatory screening test for neonatal hypothyroidism. J Pediatr 89: 550-552.
-
(1976)
J Pediatr
, vol.89
, pp. 550-552
-
-
Dussault, J.H.1
Parlow, A.2
Letarte, J.3
Guyda, H.4
Laberge, C.5
-
22
-
-
75949147186
-
A simple chromatographic screening test for the detection of disorders of amino acid metabolism: A technique using whole blood or urine collected on filter paper
-
Efron ML, Young D, Moser HW, MacCready RA (1964) A simple chromatographic screening test for the detection of disorders of amino acid metabolism: A technique using whole blood or urine collected on filter paper. New Engl J Med 270: 1378-1383.
-
(1964)
New Engl J Med
, vol.270
, pp. 1378-1383
-
-
Efron, M.L.1
Young, D.2
Moser, H.W.3
MacCready, R.A.4
-
23
-
-
34548509094
-
Screening for congenital hypothyroidism: Results of screening one million North American infants
-
Fisher DA, Dussault JH, Foley TP et al (1979) Screening for congenital hypothyroidism: Results of screening one million North American infants. J Pediatr 95: 404-406.
-
(1979)
J Pediatr
, vol.95
, pp. 404-406
-
-
Fisher, D.A.1
Dussault, J.H.2
Foley, T.P.3
-
24
-
-
0015232369
-
Newborn screening for hereditary metabolic disorders in Manitoba. 1965-1970
-
Fox JG, Hall DL, Haworth JC, Maniar A, Sekla L (1971) Newborn screening for hereditary metabolic disorders in Manitoba. 1965-1970. Can Med Assoc J 104: 1085-1088.
-
(1971)
Can Med Assoc J
, vol.104
, pp. 1085-1088
-
-
Fox, J.G.1
Hall, D.L.2
Haworth, J.C.3
Maniar, A.4
Sekla, L.5
-
25
-
-
0022628893
-
Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial
-
Gaston MH, Verter JI, Wood G, et al (1986) Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial. N Engl J Med 314: 1593-99.
-
(1986)
N Engl J Med
, vol.314
, pp. 1593-1599
-
-
Gaston, M.H.1
Verter, J.I.2
Wood, G.3
-
26
-
-
0015923083
-
Sickle cell anemia and other hemoglobinopathies: Procedures and strategy for screening spots of blood on filter paper as specimens
-
Garrick MD, Dembure P, Guthrie R (1973) Sickle cell anemia and other hemoglobinopathies: Procedures and strategy for screening spots of blood on filter paper as specimens. N Engl J Med 288: 1265-1268.
-
(1973)
N Engl J Med
, vol.288
, pp. 1265-1268
-
-
Garrick, M.D.1
Dembure, P.2
Guthrie, R.3
-
27
-
-
13144253117
-
Neonatal screening by DNA microarray: Spots and chips
-
Green NS, Pass KA (2005). Neonatal screening by DNA microarray: Spots and chips. Nature Rev Genetics 6: 147-151.
-
(2005)
Nature Rev Genetics
, vol.6
, pp. 147-151
-
-
Green, N.S.1
Pass, K.A.2
-
28
-
-
0027527564
-
Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): Comparison of screening protocols
-
Gregg RG, Wilfond BS, Farrell PM, Laxova A, Hassemer D, Mischler EH (1993) Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): Comparison of screening protocols. Am J Hum Genet 52: 616-26.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 616-626
-
-
Gregg, R.G.1
Wilfond, B.S.2
Farrell, P.M.3
Laxova, A.4
Hassemer, D.5
Mischler, E.H.6
-
29
-
-
0002446625
-
Screening for 'inborn errors of metabolism' in the newborn infant - A multiple test program
-
Guthrie R (1962) Screening for 'inborn errors of metabolism' in the newborn infant - a multiple test program. Birth defects Original Article Series IV: 92-98.
-
(1962)
Birth Defects Original Article Series
, vol.4
, pp. 92-98
-
-
Guthrie, R.1
-
30
-
-
0003205282
-
Routine screening for inborn errors in the newborn: 'Inhibition assays,' 'instant bacteria' and multiple tests
-
In Oster J, ed. Copenhagen: Statens Andssvage Forsong
-
Guthrie R (1964) Routine screening for inborn errors in the newborn: 'inhibition assays,' 'instant bacteria' and multiple tests. In Oster J, ed. Proceedings of the International Copenhagen Congress on the Scientific Study of Mental Retardation. Copenhagen: Statens Andssvage Forsong, 495-499.
-
(1964)
Proceedings of the International Copenhagen Congress on the Scientific Study of Mental Retardation
, pp. 495-499
-
-
Guthrie, R.1
-
31
-
-
0026677901
-
The origin of newborn screening
-
Guthrie R (1992) The origin of newborn screening. Screening 1: 5-15.
-
(1992)
Screening
, vol.1
, pp. 5-15
-
-
Guthrie, R.1
-
32
-
-
75449123150
-
A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
-
Guthrie R, Susi A (1963) A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32: 338-343.
-
(1963)
Pediatrics
, vol.32
, pp. 338-343
-
-
Guthrie, R.1
Susi, A.2
-
33
-
-
18944393591
-
Newborn screening in Canada - Are we out of step?
-
Hanley WB (2005) Newborn screening in Canada - are we out of step? Paediatr Child Health 10: 203-207.
-
(2005)
Paediatr Child Health
, vol.10
, pp. 203-207
-
-
Hanley, W.B.1
-
34
-
-
0014688687
-
The newborn phenylketonuria screening program in Ontario
-
Hanley WB, Partington MW, Rathbun JC, Amies CR, Webb JF, Moore JE (1969) The newborn phenylketonuria screening program in Ontario. Can Med Assoc J 101: 185-190.
-
(1969)
Can Med Assoc J
, vol.101
, pp. 185-190
-
-
Hanley, W.B.1
Partington, M.W.2
Rathbun, J.C.3
Amies, C.R.4
Webb, J.F.5
Moore, J.E.6
-
35
-
-
0016354102
-
Screening, counseling and treatment of hereditary metabolic disease; a survery of resources in Canada
-
Haworth JC, Miller JR, Scriver CR (1974) Screening, counseling and treatment of hereditary metabolic disease; a survery of resources in Canada. Can Med Assoc J 111: 1147-1153.
-
(1974)
Can Med Assoc J
, vol.111
, pp. 1147-1153
-
-
Haworth, J.C.1
Miller, J.R.2
Scriver, C.R.3
-
36
-
-
0022506692
-
Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism
-
Holtzman C, Slazyk WE, Cordero JF, Hannon WH (1986) Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism. Pediatrics 78: 553-558.
-
(1986)
Pediatrics
, vol.78
, pp. 553-558
-
-
Holtzman, C.1
Slazyk, W.E.2
Cordero, J.F.3
Hannon, W.H.4
-
37
-
-
34548506874
-
Screening for inborn errors of metabolism
-
and 53
-
Houston IB, Veale AMO (1971) Screening for inborn errors of metabolism. Lab Manag 9: 30-32 and 53.
-
(1971)
Lab Manag
, vol.9
, pp. 30-32
-
-
Houston, I.B.1
Veale, A.M.O.2
-
38
-
-
0027016808
-
Newborn screening for congenital Toxoplasma infection: Five years experience in Massachusetts, USA
-
Hsu HW, Grady GF, Maguire JH, Weiblen BJ, Hoff R (1992) Newborn screening for congenital Toxoplasma infection: Five years experience in Massachusetts, USA. Scand J Infect Dis 84 (suppl): 59-64.
-
(1992)
Scand J Infect Dis
, vol.84
, Issue.SUPPL.
, pp. 59-64
-
-
Hsu, H.W.1
Grady, G.F.2
Maguire, J.H.3
Weiblen, B.J.4
Hoff, R.5
-
39
-
-
0024518738
-
Molecular genetic diagnosis of sickle cell disease using dried blood specimens from newborn screening blotters
-
Jinks DC, Minter M, Tarver DA, Vanderford M, Hejtmancik JF, McCabe ERB (1989) Molecular genetic diagnosis of sickle cell disease using dried blood specimens from newborn screening blotters. Hum Genet 81: 363-6.
-
(1989)
Hum Genet
, vol.81
, pp. 363-366
-
-
Jinks, D.C.1
Minter, M.2
Tarver, D.A.3
Vanderford, M.4
Hejtmancik, J.F.5
McCabe, E.R.B.6
-
40
-
-
33744801974
-
Financing state newborn screening programs: Sources and uses of funds
-
Johnson K, Lloyd-Puryear MA, Mann MY, Ramos LR, Therrell BL (2006) Financing state newborn screening programs: Sources and uses of funds. Pediatrics 117 (suppl): S270-9.
-
(2006)
Pediatrics
, vol.117
, Issue.SUPPL.
-
-
Johnson, K.1
Lloyd-Puryear, M.A.2
Mann, M.Y.3
Ramos, L.R.4
Therrell, B.L.5
-
41
-
-
0033775739
-
Year 2000 position statement: Principles and guidelines for early hearing detection and intervention programs
-
Joint Commission on Infant Hearing
-
Joint Commission on Infant Hearing (2000) Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs. Pediatrics 106: 798-817.
-
(2000)
Pediatrics
, vol.106
, pp. 798-817
-
-
-
43
-
-
0023922488
-
Newborn screening in the 80's - The automation of follow-up
-
Kling S, Nash C, Jones D (1988) Newborn screening in the 80's - the automation of follow-up. J Med Sys 12: 89-96.
-
(1988)
J Med Sys
, vol.12
, pp. 89-96
-
-
Kling, S.1
Nash, C.2
Jones, D.3
-
44
-
-
34548500230
-
Organization and cost benefits of mass screening programs
-
In: Burrow GN, Dussault JH eds New York: Raven Press
-
Laberge C (1980) Organization and cost benefits of mass screening programs. In: Burrow GN, Dussault JH eds Neonatal Thyroid Screening. New York: Raven Press, 189-198.
-
(1980)
Neonatal Thyroid Screening
, pp. 189-198
-
-
Laberge, C.1
-
45
-
-
0022357720
-
Screening for congenital hypothyroidism with specimen collection at two time periods: Results of the Northwest Regional Screening Program
-
LaFranchi SH, Hanna CE, Krainz PL, Skeels MR, Miyahira RS, Sesser DE (1985) Screening for congenital hypothyroidism with specimen collection at two time periods: Results of the Northwest Regional Screening Program. Pediatrics 76: 734-740.
-
(1985)
Pediatrics
, vol.76
, pp. 734-740
-
-
LaFranchi, S.H.1
Hanna, C.E.2
Krainz, P.L.3
Skeels, M.R.4
Miyahira, R.S.5
Sesser, D.E.6
-
46
-
-
10744226079
-
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 (2004) Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem 50: 621-625.
-
(2004)
Clin Chem
, vol.50
, pp. 621-625
-
-
Lacey, J.M.1
Minutti, C.Z.2
Magera, M.J.3
-
47
-
-
34548503294
-
Controversies over neontatl screening for muscular dystrophy
-
In Therrell BL ed Amsterdam: Elsevier Science Publishers
-
Lemieux B, Auray-Blais C, Giguere R, Bernier J-P (1987) Controversies over neontatl screening for muscular dystrophy. In Therrell BL ed Advances in Neonatal Screening. Amsterdam: Elsevier Science Publishers, 355-360.
-
(1987)
Advances in Neonatal Screening
, pp. 355-360
-
-
Lemieux, B.1
Auray-Blais, C.2
Giguere, R.3
Bernier, J.-P.4
-
48
-
-
0023881189
-
Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine
-
Lemieux B, Auray-Blais C, Giguere R, Shapcott D, Scriver CR (1988) Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine. J Inherit Metab Dis 11: 45-55.
-
(1988)
J Inherit Metab Dis
, vol.11
, pp. 45-55
-
-
Lemieux, B.1
Auray-Blais, C.2
Giguere, R.3
Shapcott, D.4
Scriver, C.R.5
-
50
-
-
0022759607
-
Second testing for hypothyroidism
-
Levine GD, Therrell BL (1986) Second testing for hypothyroidism. Pediatrics 78: 375-376.
-
(1986)
Pediatrics
, vol.78
, pp. 375-376
-
-
Levine, G.D.1
Therrell, B.L.2
-
51
-
-
1542299000
-
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: Application to newborn screening for Krabbe disease
-
Li Y, Brockmann K, Turecek F, Scott CR, Gelb, MH (2004) Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. Clin Chem 50: 638-640.
-
(2004)
Clin Chem
, vol.50
, pp. 638-640
-
-
Li, Y.1
Brockmann, K.2
Turecek, F.3
Scott, C.R.4
Gelb, M.H.5
-
52
-
-
33646488382
-
Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I
-
Magera MJ, Gunawardena ND, Hahn SH et al (2006) Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Molec Genet Metabol 88: 16-21.
-
(2006)
Molec Genet Metabol
, vol.88
, pp. 16-21
-
-
Magera, M.J.1
Gunawardena, N.D.2
Hahn, S.H.3
-
53
-
-
0023904781
-
Computerized tracking for newborn screening and follow-up: A review
-
Meaney FJ (1988) Computerized tracking for newborn screening and follow-up: A review. J Med Sys 12: 69-75.
-
(1988)
J Med Sys
, vol.12
, pp. 69-75
-
-
Meaney, F.J.1
-
54
-
-
0023130168
-
DNA microextraction from dried blood spots on filter paper blotters: Potential applications to newborn screening
-
McCabe ERB, Huang S-Z, Seltzer WK, Law ML (1987) DNA microextraction from dried blood spots on filter paper blotters: Potential applications to newborn screening. Hum Genet 75: 213-216.
-
(1987)
Hum Genet
, vol.75
, pp. 213-216
-
-
McCabe, E.R.B.1
Huang, S.-Z.2
Seltzer, W.K.3
Law, M.L.4
-
55
-
-
29144489364
-
Two-tiered universal newborn screening strategy for severe combined immunodeficiency
-
McGhee SA, Stiehm ER, Cowan M, Krogstad P, McCabe ER (2005a) Two-tiered universal newborn screening strategy for severe combined immunodeficiency. Molec Genet Metabol 86: 427-430.
-
(2005)
Molec Genet Metabol
, vol.86
, pp. 427-430
-
-
McGhee, S.A.1
Stiehm, E.R.2
Cowan, M.3
Krogstad, P.4
McCabe, E.R.5
-
56
-
-
27744515099
-
Potential costs and benefits of newborn screening for severe combined immunodeficiency
-
McGhee SA, Stiehm ER, McCabe ER (2005b) Potential costs and benefits of newborn screening for severe combined immunodeficiency. J Pediatr 147: 603-608.
-
(2005)
J Pediatr
, vol.147
, pp. 603-608
-
-
McGhee, S.A.1
Stiehm, E.R.2
McCabe, E.R.3
-
57
-
-
0025129387
-
Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
-
Millington DS, Kodo N, Norwood DL, Roe CR (1990) Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metabol Dis 13: 321-324.
-
(1990)
J Inherit Metabol Dis
, vol.13
, pp. 321-324
-
-
Millington, D.S.1
Kodo, N.2
Norwood, D.L.3
Roe, C.R.4
-
58
-
-
3442878589
-
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia
-
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. J Clin Endocriol Metabol 89: 3687-3693.
-
(2004)
J Clin Endocriol Metabol
, vol.89
, pp. 3687-3693
-
-
Minutti, C.Z.1
Lacey, J.M.2
Magera, M.J.3
-
59
-
-
0023949325
-
Computer assisted management of a regionalized newborn screening program
-
Mordaunt VL, Cunningham GC, Kan K (1988) Computer assisted management of a regionalized newborn screening program. J Med Sys 12: 77-88.
-
(1988)
J Med Sys
, vol.12
, pp. 77-88
-
-
Mordaunt, V.L.1
Cunningham, G.C.2
Kan, K.3
-
60
-
-
0015291292
-
Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens
-
Murphey WH, Patchen L, Guthrie R (1972) Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens. Biochem Genet 6: 51-59.
-
(1972)
Biochem Genet
, vol.6
, pp. 51-59
-
-
Murphey, W.H.1
Patchen, L.2
Guthrie, R.3
-
61
-
-
0023644113
-
Newborn screening for sickle cell disease and other hemoglobinopathies
-
National Institutes of Health, Consensus Development Conference Statement
-
National Institutes of Health, Consensus Development Conference Statement (1987) Newborn screening for sickle cell disease and other hemoglobinopathies. J Amer Med Assoc 258: 1205-9.
-
(1987)
J Amer Med Assoc
, vol.258
, pp. 1205-1209
-
-
-
62
-
-
0027487354
-
Early identification of hearing impairment in infants and young children
-
National Institutes of Health, Consensus Development Conference Statement
-
National Institutes of Health, Consensus Development Conference Statement (1993) Early identification of hearing impairment in infants and young children. Internat J Pediatr Otorhinolaryngol 27: 215-227.
-
(1993)
Internat J Pediatr Otorhinolaryngol
, vol.27
, pp. 215-227
-
-
-
63
-
-
0004299939
-
-
National Research Council, Committee for the Study of Inborn Errors of Metabolism Washington, D.C.: National Academy of Science
-
National Research Council, Committee for the Study of Inborn Errors of Metabolism (1975) Genetic screening: Programs, principles, and research. Washington, D.C.: National Academy of Science.
-
(1975)
Genetic Screening: Programs, Principles, and Research
-
-
-
64
-
-
0017805158
-
Newborn screening for maple syrup urine disease (branched-chain ketoaciduria)
-
Naylor EW, Guthrie R
-
Naylor EW, Guthrie R (1978) Newborn screening for maple syrup urine disease (branched-chain ketoaciduria). Pediatrics 61: 262-266.
-
(1978)
Pediatrics
, vol.61
, pp. 262-266
-
-
-
65
-
-
0017341091
-
A simple screening test for arginase deficiency (hyperargininemia)
-
Naylor EW, Orfanos AP, Guthrie R (1977) A simple screening test for arginase deficiency (hyperargininemia). J Lab Clin Med 89: 876-880.
-
(1977)
J Lab Clin Med
, vol.89
, pp. 876-880
-
-
Naylor, E.W.1
Orfanos, A.P.2
Guthrie, R.3
-
66
-
-
0017886336
-
An improved screening test for adenosine deaminase deficiency
-
Naylor EW, Orfanos AP, Guthrie R (1978). An improved screening test for adenosine deaminase deficiency. J Pediatr 93: 473-476.
-
(1978)
J Pediatr
, vol.93
, pp. 473-476
-
-
Naylor, E.W.1
Orfanos, A.P.2
Guthrie, R.3
-
67
-
-
0015912850
-
PKU screening - Is it worth it?
-
Ontario Ministry of Health, Advisory Committee on Inborn Errors of Metabolism
-
Ontario Ministry of Health, Advisory Committee on Inborn Errors of Metabolism (1973) PKU screening - is it worth it? Can Med Assoc J 108: 328-329.
-
(1973)
Can Med Assoc J
, vol.108
, pp. 328-329
-
-
-
68
-
-
0017801603
-
Micromethod for estimating adenosine deaminase activity in dried blood spots on filter paper
-
Orfanos AP, Naylor EW, Guthrie R (1978) Micromethod for estimating adenosine deaminase activity in dried blood spots on filter paper. Clin Chem 24: 591-594.
-
(1978)
Clin Chem
, vol.24
, pp. 591-594
-
-
Orfanos, A.P.1
Naylor, E.W.2
Guthrie, R.3
-
69
-
-
0017658750
-
Micro filter paper method for 17-hydroxyprogesterone radioimmunoassay: Its application for rapid screening for congenital adrenal hyperplasia
-
Pang S, Hotchkiss J, Drash AL, Levine LS, New MI (1977) Micro filter paper method for 17-hydroxyprogesterone radioimmunoassay: Its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 45: 1003-1008.
-
(1977)
J Clin Endocrinol Metab
, vol.45
, pp. 1003-1008
-
-
Pang, S.1
Hotchkiss, J.2
Drash, A.L.3
Levine, L.S.4
New, M.I.5
-
70
-
-
0029121111
-
Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry
-
Rashed MS, Ozand PT, Bucknall MP, Little D (1995) Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 38:324-31.
-
(1995)
Pediatr Res
, vol.38
, pp. 324-331
-
-
Rashed, M.S.1
Ozand, P.T.2
Bucknall, M.P.3
Little, D.4
-
73
-
-
33745280137
-
High incidence of later-onset Fabry disease revealed by newborn screening
-
Spada M, Pagliardini S, Yasuda M, et al (2006) High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet 79: 31-40.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 31-40
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
-
74
-
-
34548492620
-
Computerization in the newborn screening laboratory: An aid to data management
-
In Naruse H, Irie M, eds. Amsterdam: Elsevier Science Publishers
-
Therrell BL (1982) Computerization in the newborn screening laboratory: an aid to data management. In Naruse H, Irie M, eds. Neonatal Screening. Amsterdam: Elsevier Science Publishers, 455-460.
-
(1982)
Neonatal Screening
, pp. 455-460
-
-
Therrell, B.L.1
-
75
-
-
0024378882
-
Hemoglobinopathy testing in newborn screening programs in the United States
-
In Schmidt BJ, Diament AJ, Loghin-Grosso NS, eds. Amsterdam: Elsevier Science Publishers
-
Therrell BL (1988) Hemoglobinopathy testing in newborn screening programs in the United States. In Schmidt BJ, Diament AJ, Loghin-Grosso NS, eds. Current Trends in Infant Screening. Amsterdam: Elsevier Science Publishers, 331-337.
-
(1988)
Current Trends in Infant Screening
, pp. 331-337
-
-
Therrell, B.L.1
-
76
-
-
0034794064
-
U.S. newborn screening policy dilemmas for the twenty-first century
-
Therrell BL (2001) U.S. newborn screening policy dilemmas for the twenty-first century. Molec Genet Metabol 74: 64-74.
-
(2001)
Molec Genet Metabol
, vol.74
, pp. 64-74
-
-
Therrell, B.L.1
-
77
-
-
20844454712
-
Data integration and warehousing: Coordination between newborn screening and related public health programs
-
Therrell BL (2003) Data integration and warehousing: Coordination between newborn screening and related public health programs. Southeast Asian J Trop Med Pub Health 34 (suppl 3): 63-68. 63-68
-
(2003)
Southeast Asian J Trop Med Pub Health
, vol.34
, Issue.SUPPL. 3
, pp. 63-68
-
-
Therrell, B.L.1
-
78
-
-
0023910823
-
Computerized newborn screening in Texas - A multiple microcomputer approach
-
Therrell BL, Brown LO (1988) Computerized newborn screening in Texas - a multiple microcomputer approach. J Med Sys 12: 115-20.
-
(1988)
J Med Sys
, vol.12
, pp. 115-120
-
-
Therrell, B.L.1
Brown, L.O.2
-
80
-
-
0004416275
-
Newborn screening systems in the United States
-
In Wilcken B, Webster D, eds. Manly Vale, NSW, Australia: The Kelvin Press
-
Therrell BL, Tuerck JM, McCabe ERB (1992a) Newborn screening systems in the United States. In Wilcken B, Webster D, eds. Neonatal Screening in the Nineties. Manly Vale, NSW, Australia: The Kelvin Press, 18-24.
-
(1992)
Neonatal Screening in the Nineties
, pp. 18-24
-
-
Therrell, B.L.1
Tuerck, J.M.2
McCabe, E.R.B.3
-
81
-
-
38249015730
-
U.S. Newborn screening system guidelines: Statement of the Council of Regional Networks for Genetic Services
-
Therrell BL, Panny SR, Davidson A, et al (1992b) U.S. Newborn screening system guidelines: Statement of the Council of Regional Networks for Genetic Services. Screening 1:135-147.
-
(1992)
Screening
, vol.1
, pp. 135-147
-
-
Therrell, B.L.1
Panny, S.R.2
Davidson, A.3
-
82
-
-
33847080802
-
Financing newborn screening: Sources, issues, and future considerations
-
Therrell BL, Williams D, Johnson K, Lloyd-Puryear MA, Mann MY, Ramos LR (2007) Financing newborn screening: Sources, issues, and future considerations. J Pub Health Management and Practice 13: 207-213.
-
(2007)
J Pub Health Management and Practice
, vol.13
, pp. 207-213
-
-
Therrell, B.L.1
Williams, D.2
Johnson, K.3
Lloyd-Puryear, M.A.4
Mann, M.Y.5
Ramos, L.R.6
-
83
-
-
33847057138
-
-
US General Accounting Office Washington, D.C.: US Government Printing Office, Publication No. GAO-03-449
-
US General Accounting Office (2003) State NBS Programs. Washington, D.C.: US Government Printing Office, Publication No. GAO-03-449.
-
(2003)
State NBS Programs
-
-
-
85
-
-
33745793046
-
Screening for inborn errors of metabolism
-
World Health Organization, Scientific Group on Screening for Inborn Errors of Metabolism
-
World Health Organization, Scientific Group on Screening for Inborn Errors of Metabolism (1968) Screening for inborn errors of metabolism. WHO Technical Report Series 401: 1-57.
-
(1968)
WHO Technical Report Series
, vol.401
, pp. 1-57
-
-
-
86
-
-
0023936725
-
Postrelational database implementation for newborn screening and tracking
-
Wolfson M, Wu MM (1988) Postrelational database implementation for newborn screening and tracking. J Med Sys 12: 105-113.
-
(1988)
J Med Sys
, vol.12
, pp. 105-113
-
-
Wolfson, M.1
Wu, M.M.2
-
87
-
-
34548476362
-
Health care: Funding, facts and future
-
Yeates G (2007) Health care: Funding, facts and future. Policy Opinions March: 69-72.
-
(2007)
Policy Opinions March
, pp. 69-72
-
-
Yeates, G.1
-
88
-
-
0026710551
-
RNA analysis from newborn screening dried blood specimens
-
Zhang YH, McCabe ERB (1992) RNA analysis from newborn screening dried blood specimens. Hum Genet 89: 311-314.
-
(1992)
Hum Genet
, vol.89
, pp. 311-314
-
-
Zhang, Y.H.1
McCabe, E.R.B.2
|