-
1
-
-
0003042138
-
The influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuric child
-
Bickel HJ, Gerrard J, Hickmans EM. The influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuric child. Acta Paediatr 1954;43:64-88
-
(1954)
Acta Paediatr
, vol.43
, pp. 64-88
-
-
Bickel, H.J.1
Gerrard, J.2
Hickmans, E.M.3
-
2
-
-
44249085044
-
-
Conference on phenylketonuria: treatment of phenylketonuria. Report to the Medical Research Council. BMJ 1963;i:1691-7
-
Conference on phenylketonuria: treatment of phenylketonuria. Report to the Medical Research Council. BMJ 1963;i:1691-7
-
-
-
-
3
-
-
0025914001
-
Review of neonatal screening programme for phenylketonuria
-
Smith I, Cook B, Beasley M. Review of neonatal screening programme for phenylketonuria. BMJ 1991;303:333-5
-
(1991)
BMJ
, vol.303
, pp. 333-335
-
-
Smith, I.1
Cook, B.2
Beasley, M.3
-
4
-
-
0029074863
-
Survey of scope of neonatal screening in the United Kingdom
-
Streetly A, Grant C, Pollitt RJ, Addison GM. Survey of scope of neonatal screening in the United Kingdom. BMJ 1995;311:726
-
(1995)
BMJ
, vol.311
, pp. 726
-
-
Streetly, A.1
Grant, C.2
Pollitt, R.J.3
Addison, G.M.4
-
5
-
-
0020458232
-
Galactosaemia detection as a bonus from screening for phenylketonuria
-
Pollitt RJ, Worthy E, Green A. Galactosaemia detection as a bonus from screening for phenylketonuria. J Inherit Metab Dis 1982;5:51-2
-
(1982)
J Inherit Metab Dis
, vol.5
, pp. 51-52
-
-
Pollitt, R.J.1
Worthy, E.2
Green, A.3
-
6
-
-
44249099363
-
-
Department of Health and Social Security. Screening for Congenital Hypothyroidism. London: DHSS, 1980:HN(81)20
-
Department of Health and Social Security. Screening for Congenital Hypothyroidism. London: DHSS, 1980:HN(81)20
-
-
-
-
7
-
-
0015808415
-
Thyroxine (T4) determination in dried blood by radioimmunoassay: A screening method for congenital hypothyroidism
-
Dussault JH, Laberge C. Thyroxine (T4) determination in dried blood by radioimmunoassay: a screening method for congenital hypothyroidism. Union Med Can 1973;102:2062
-
(1973)
Union Med Can
, vol.102
, pp. 2062
-
-
Dussault, J.H.1
Laberge, C.2
-
8
-
-
0018901405
-
Population screening for congenital hypothyroidism
-
Hulse JA, Grant DB, Clayton BE, et al. Population screening for congenital hypothyroidism. BMJ 1980;280:675-8
-
(1980)
BMJ
, vol.280
, pp. 675-678
-
-
Hulse, J.A.1
Grant, D.B.2
Clayton, B.E.3
-
9
-
-
33646542883
-
-
UK Newborn Screening Programme Centre, See updated version on, April
-
UK Newborn Screening Programme Centre. Newborn Blood Spot Screening in the UK. Policies and Standards. See updated version on http:// newbornscreening-bloodspot.org.uk (April 2005)
-
(2005)
Newborn Blood Spot Screening in the UK. Policies and Standards
-
-
-
10
-
-
0013940504
-
Legislation and advances in medical knowledge - acceleration or inhibition?
-
Bessman SP. Legislation and advances in medical knowledge - acceleration or inhibition? J Pediatr 1966;69:334-8
-
(1966)
J Pediatr
, vol.69
, pp. 334-338
-
-
Bessman, S.P.1
-
11
-
-
0002584475
-
Organisation of a regional newborn screening laboratory
-
Bickel H, Guthrie R, Hammersen G, eds, Berlin: Springer-Verlag
-
Guthrie R. Organisation of a regional newborn screening laboratory. In: Bickel H, Guthrie R, Hammersen G, eds. Neonatal Screening for Inborn Errors of Metabolism. Berlin: Springer-Verlag, 1980:259-70
-
(1980)
Neonatal Screening for Inborn Errors of Metabolism
, pp. 259-270
-
-
Guthrie, R.1
-
13
-
-
17144470109
-
Neonatal screening for inborn errors of metabolism: Cost, yield and outcome
-
Pollitt RJ, Green A, McCabe CJ, et al. Neonatal screening for inborn errors of metabolism: cost, yield and outcome. Health Technol Assess 1997;1:1-203
-
(1997)
Health Technol Assess
, vol.1
, pp. 1-203
-
-
Pollitt, R.J.1
Green, A.2
McCabe, C.J.3
-
14
-
-
0033454093
-
Principles and performance: Assessing the evidence
-
Pollitt RJ. Principles and performance: assessing the evidence. Acta Paediatr Suppl 1999;88:110-14
-
(1999)
Acta Paediatr Suppl
, vol.88
, pp. 110-114
-
-
Pollitt, R.J.1
-
15
-
-
44249123166
-
-
Neonatal Screening in Europe. International Society for Newborn Screening Factsheet. See http://www.isns-neoscreening.org/pdf/(2003) Europeanscreening2003overview2.PDF (last accessed 30 January 2007)
-
Neonatal Screening in Europe. International Society for Newborn Screening Factsheet. See http://www.isns-neoscreening.org/pdf/(2003) Europeanscreening2003overview2.PDF (last accessed 30 January 2007)
-
-
-
-
16
-
-
0036201367
-
Newborn screening for Duchenne muscular dystrophy: A psychosocial study
-
Parsons EP, Clarke AJ, Hood K, Lycett E, Bradley DM. Newborn screening for Duchenne muscular dystrophy: a psychosocial study. Arch Dis Child Fetal Neonatal Ed 2002;86:F91-5
-
(2002)
Arch Dis Child Fetal Neonatal Ed
, vol.86
-
-
Parsons, E.P.1
Clarke, A.J.2
Hood, K.3
Lycett, E.4
Bradley, D.M.5
-
18
-
-
29344441709
-
Newborn screening for inborn errors of metabolism: A systematic review
-
Seymour CA, Thomason MJ, Chalmers RA, et al. Newborn screening for inborn errors of metabolism: a systematic review. Health Technol Assess 1997;1:1-95
-
(1997)
Health Technol Assess
, vol.1
, pp. 1-95
-
-
Seymour, C.A.1
Thomason, M.J.2
Chalmers, R.A.3
-
19
-
-
44249124381
-
-
NHS R&D Health Technology Assessment Programme. Health Technology Assessment. All reports are available on http://www.ncchta.org/
-
NHS R&D Health Technology Assessment Programme. Health Technology Assessment. All reports are available on http://www.ncchta.org/
-
-
-
-
20
-
-
44249118674
-
-
Working Party of the Clinical Genetics Society, See http:// last accessed 31 January
-
Working Party of the Clinical Genetics Society. Genetic Testing of Children. See http://www.clingensoc.org/Docs/Testing_of_Children1994.pdf (last accessed 31 January 2006)
-
(2006)
Genetic Testing of Children
-
-
-
21
-
-
44249108896
-
-
Westminster Hall Debate. Hansard. 16 January 2001, Columns WH62-WH70. See http://www.parliament.the-stationery-office.co.uk/pa/cm/cmhansrd. htm
-
Westminster Hall Debate. Hansard. 16 January 2001, Columns WH62-WH70. See http://www.parliament.the-stationery-office.co.uk/pa/cm/cmhansrd. htm
-
-
-
-
22
-
-
27744434819
-
-
Cystic fibrosis newborn screening: evidence for benefit and current experience. Proceedings from a workshop, 20-21 November 2003, Atlanta, Georgia, USA. J Pediatr 2005;147(3 Suppl):S1-113
-
Cystic fibrosis newborn screening: evidence for benefit and current experience. Proceedings from a workshop, 20-21 November 2003, Atlanta, Georgia, USA. J Pediatr 2005;147(3 Suppl):S1-113
-
-
-
-
23
-
-
44249109591
-
-
last accessed 3 December 2006
-
http://www.ich.ucl.ac.uk/newborn/download/ national_std_protocol_algorithm.pdf (last accessed 3 December 2006)
-
-
-
-
24
-
-
44249123898
-
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency (MCADD): Findings from a multicentre prospective UK collaborative study (Abstract)
-
Shortland G, Besley G, Bohnam J, et al. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency (MCADD): findings from a multicentre prospective UK collaborative study (Abstract). J Inherit Metab Dis 2006;29(Suppl 1):19
-
(2006)
J Inherit Metab Dis
, vol.29
, Issue.SUPPL. 1
, pp. 19
-
-
Shortland, G.1
Besley, G.2
Bohnam, J.3
-
25
-
-
34548476003
-
Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004-2007)
-
Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P. Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007). J Inherit Metab Dis 2007;30:585-92
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 585-592
-
-
Matern, D.1
Tortorelli, S.2
Oglesbee, D.3
Gavrilov, D.4
Rinaldo, P.5
-
26
-
-
33745095968
-
International perspectives in newborn screening
-
Pollitt RJ. International perspectives in newborn screening. J Inherit Metab Dis 2006;29:390-6
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 390-396
-
-
Pollitt, R.J.1
-
27
-
-
33745108808
-
Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders
-
Gelb MH, Turecek F, Scott CR, Chamoles NA. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis 2006;29:397-404
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 397-404
-
-
Gelb, M.H.1
Turecek, F.2
Scott, C.R.3
Chamoles, N.A.4
-
28
-
-
17344383506
-
Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: A systematic review
-
Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S. Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Health Technol Assess 2004;8:1-121
-
(2004)
Health Technol Assess
, vol.8
, pp. 1-121
-
-
Pandor, A.1
Eastham, J.2
Beverley, C.3
Chilcott, J.4
Paisley, S.5
-
29
-
-
0031798844
-
Strategies for the treatment of cystathionine b-synthase deficiency: The experience of the Willink Biochemical Genetics Unit over the past 30 years
-
Walter JH, Wraith JE, White FJ, Bridge C, Till J. Strategies for the treatment of cystathionine b-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years. Eur J Pediatr 1998;157(Suppl 2):S71-6
-
(1998)
Eur J Pediatr
, vol.157
, Issue.SUPPL. 2
-
-
Walter, J.H.1
Wraith, J.E.2
White, F.J.3
Bridge, C.4
Till, J.5
-
30
-
-
44249122935
-
-
See http:// last accessed 15 February
-
UK National Screening Committee. Amino acid Metabolism Disorder Screening. See http://www.library.nhs.uk/screening/ViewResource.aspx?resID= 88267&tabID=288&catID=10214 (last accessed 15 February 2007)
-
(2007)
Amino acid Metabolism Disorder Screening
-
-
-
31
-
-
0029586133
-
Clinical trials and rare diseases: A way out of the conundrum
-
Lilford RJ, Thornton JG, Braunholtz D. Clinical trials and rare diseases: a way out of the conundrum. BMJ 1995;311:1621-5
-
(1995)
BMJ
, vol.311
, pp. 1621-1625
-
-
Lilford, R.J.1
Thornton, J.G.2
Braunholtz, D.3
-
32
-
-
0032438999
-
Evaluating newborn screening programmes based on dried blood spots: Future challenges
-
Dezateux C. Evaluating newborn screening programmes based on dried blood spots: future challenges. Br Med Bull 1998;54:877-90
-
(1998)
Br Med Bull
, vol.54
, pp. 877-890
-
-
Dezateux, C.1
-
33
-
-
44249120439
-
-
Streetley A, Corbett V. The National Newborn Screening Programme. An Audit of Phenylketonuria and Congenital Hypothyroidism Screening in England and Wales. London: Department of Public Health Medicine, UDMS Guy's and St Thomas's Medical Schools, 1998
-
Streetley A, Corbett V. The National Newborn Screening Programme. An Audit of Phenylketonuria and Congenital Hypothyroidism Screening in England and Wales. London: Department of Public Health Medicine, UDMS Guy's and St Thomas's Medical Schools, 1998
-
-
-
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