-
1
-
-
75449123150
-
A simple phenylalanine method for detecting phenylk-etonuria in large populations of newborn infants
-
Guthrie R, Susi A. A simple phenylalanine method for detecting phenylk-etonuria in large populations of newborn infants. Pediatrics 1963;32:338-343.
-
(1963)
Pediatrics
, vol.32
, pp. 338-343
-
-
Guthrie, R.1
Susi, A.2
-
3
-
-
0034790129
-
-
National Institutes of Health Consensus Development Panel, National Institutes of Health Consensus Development Conference Statement: phenylke-tonuria: screening and management October 16-18, 2000
-
National Institutes of Health Consensus Development Panel. National Institutes of Health Consensus Development Conference Statement: phenylke-tonuria: screening and management, October 16-18, 2000. Pediatrics, 2001; 108, 972-982.
-
(2001)
Pediatrics
, vol.108
, pp. 972-982
-
-
-
4
-
-
0025129387
-
Tandem mass spectrometry: A new method of acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
-
Millington DS, Kodo N, Norwood DL, Roe CR. Tandem mass spectrometry: a new method of acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. L Inherit Metab Dis 1990;13:321-324.
-
(1990)
L Inherit Metab Dis
, vol.13
, pp. 321-324
-
-
Millington, D.S.1
Kodo, N.2
Norwood, D.L.3
Roe, C.R.4
-
5
-
-
33744784588
-
Newborn screening: Toward a uniform screening panel and system- executive summary
-
ACMG Newborn Screening Expert Group
-
ACMG Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system- executive summary. Pediatrics 2006; 117:S296-S307.
-
(2006)
Pediatrics
, vol.117
-
-
-
6
-
-
85205846560
-
-
The National Newborn Screening and Genetics Resource Center. Available at Accessed August 1, 2007
-
The National Newborn Screening and Genetics Resource Center. Available at: http://genes-r-us.uthscsa.edu. Accessed August 1, 2007.
-
-
-
-
7
-
-
33644692103
-
Research for newborn screening: Developing a national framework
-
Botkin JR. Research for newborn screening: developing a national framework. Pediatrics 2005;116:862-871.
-
(2005)
Pediatrics
, vol.116
, pp. 862-871
-
-
Botkin, J.R.1
-
8
-
-
0032920880
-
Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis
-
Wilson CJ, Champion MP, Collins JE, Clayton PT, Leonard JV. Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Arch Dis Child 1999;80:459-462.
-
(1999)
Arch Dis Child
, vol.80
, pp. 459-462
-
-
Wilson, C.J.1
Champion, M.P.2
Collins, J.E.3
Clayton, P.T.4
Leonard, J.V.5
-
9
-
-
33745098400
-
'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry
-
Dionisi-Vici C, Deodato F, Röschinger W, Rhead W, Wilcken B. 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis 2006;29:383-389.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 383-389
-
-
Dionisi-Vici, C.1
Deodato, F.2
Röschinger, W.3
Rhead, W.4
Wilcken, B.5
-
10
-
-
33846031149
-
The clinical aspects of newborn screening: Importance of newborn screening follow-up
-
James PM, Levy HL. The clinical aspects of newborn screening: importance of newborn screening follow-up. Ment Retard Dev Disabil Res Rev 2006; 12:246-254.
-
(2006)
Ment Retard Dev Disabil Res Rev
, vol.12
, pp. 246-254
-
-
James, P.M.1
Levy, H.L.2
-
11
-
-
33745321363
-
Practices and perceptions of long-term follow-up among state newborn screening programs
-
DOI 10.1542/peds.2005-1830
-
Hoff T, Hoyt A. Practices and perceptions of long-term follow-up among state newborn screening programs. Pediatrics 2006;117:1922-1929. (Pubitemid 46071235)
-
(2006)
Pediatrics
, vol.117
, Issue.6
, pp. 1922-1929
-
-
Hoff, T.1
Hoyt, A.2
-
12
-
-
34548480825
-
Newborn screening long-term follow-up assessment
-
Association of Maternal and Child Health Programs Available at Accessed August 1, 2007
-
Association of Maternal and Child Health Programs. Newborn screening long-term follow-up assessment. AMCHP report, 2007. Available at: http:// www.amchp.org. Accessed August 1, 2007.
-
(2007)
AMCHP Report
-
-
-
13
-
-
0037639877
-
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Results, outcome and implications
-
Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome and implications. Pediatrics 2003;111:1399-1406.
-
(2003)
Pediatrics
, vol.111
, pp. 1399-1406
-
-
Schulze, A.1
Lindner, M.2
Kohlmüller, D.3
Olgemöller, K.4
Mayatepek, E.5
Hoffmann, G.F.6
-
14
-
-
0344081182
-
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
-
Waisbren SE, Albers S, Amato S, et al. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 2003;290:2564-2572.
-
(2003)
JAMA
, vol.290
, pp. 2564-2572
-
-
Waisbren, S.E.1
Albers, S.2
Amato, S.3
-
15
-
-
33747586136
-
Newborn screening for metabolic disorders
-
Waisbren SE. Newborn screening for metabolic disorders. JAMA 2006;296: 993-995.
-
(2006)
JAMA
, vol.296
, pp. 993-995
-
-
Waisbren, S.E.1
-
16
-
-
85205859903
-
-
The Mountain States Genetics Regional Collaborative Center Accessed August 1, 2007
-
The Mountain States Genetics Regional Collaborative Center. Available at: http://www.msgrcc.org. Accessed August 1, 2007.
-
-
-
-
17
-
-
85205891005
-
-
American College of Medical Genetics. Accessed August 1, 2007
-
American College of Medical Genetics. Available at: http://www.acmg.net/ resources/policies/ACT/condition-analytelinks.htm. Accessed August 1, 2007.
-
-
-
-
18
-
-
17844371476
-
Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: Impact of expanded newborn screening on their diagnosis and management
-
Shekhawat PS, Matern D, Strauss AW. Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management. Pediatr Res 2005; 57:78R-86R.
-
(2005)
Pediatr Res
, vol.57
-
-
Shekhawat, P.S.1
Matern, D.2
Strauss, A.W.3
-
19
-
-
0025580566
-
Neuropsy-chology of early-treated phenylketonuria: Specific executive function deficits
-
Welsh MC, Pennington BF, Ozonoff S, Rouse B, McCabe ER. Neuropsy-chology of early-treated phenylketonuria: specific executive function deficits. Child Dev 1990;61:1697-1713.
-
(1990)
Child Dev
, vol.61
, pp. 1697-1713
-
-
Welsh, M.C.1
Pennington, B.F.2
Ozonoff, S.3
Rouse, B.4
McCabe, E.R.5
-
20
-
-
33845897373
-
Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: A cohort study
-
Wilcken B, Haas M, Joy P, et al. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 2007;369:37-42.
-
(2007)
Lancet
, vol.369
, pp. 37-42
-
-
Wilcken, B.1
Haas, M.2
Joy, P.3
-
21
-
-
33745106324
-
Natural history, outcome, and treatment efficacy in children and adults with gluatryl-CoA dehydrogenase deficiency
-
Kölker S, Garbade SF, Greenberg CR, et al. Natural history, outcome, and treatment efficacy in children and adults with gluatryl-CoA dehydrogenase deficiency. Pediatric Res 2006;59:840-847.
-
(2006)
Pediatric Res
, vol.59
, pp. 840-847
-
-
Kölker, S.1
Garbade, S.F.2
Greenberg, C.R.3
-
22
-
-
0018743874
-
Management of maternal phenylketonuria: An emerging clinical problem
-
Komrower GM, Sardharwalla IB, Coutts JM, Ingham D. Management of maternal phenylketonuria: an emerging clinical problem. Br Med J 1979;1: 1383-1387.
-
(1979)
Br Med J
, vol.1
, pp. 1383-1387
-
-
Komrower, G.M.1
Sardharwalla, I.B.2
Coutts, J.M.3
Ingham, D.4
-
23
-
-
0036696555
-
A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency
-
Straussberg R, Strauss AW. A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency. Pediatr Neurol 2002;27:136-137.
-
(2002)
Pediatr Neurol
, vol.27
, pp. 136-137
-
-
Straussberg, R.1
Strauss, A.W.2
-
24
-
-
8844230268
-
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening
-
Ensenauer R, Vockley J, Willard JM, et al. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet 2004;75:1136-1142.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 1136-1142
-
-
Ensenauer, R.1
Vockley, J.2
Willard, J.M.3
-
25
-
-
33646533134
-
Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
-
Vockley J, Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet 2006;142C: 95-103.
-
(2006)
Am J Med Genet C Semin Med Genet
, vol.142 C
, pp. 95-103
-
-
Vockley, J.1
Ensenauer, R.2
-
26
-
-
33747597603
-
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency
-
Van Maldegem BT, Duran M, Wanders RJ, et al. Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA 2006;296:943-952.
-
(2006)
JAMA
, vol.296
, pp. 943-952
-
-
Van Maldegem, B.T.1
Duran, M.2
Wanders, R.J.3
-
27
-
-
33947618965
-
Recent advances in newborn screening
-
Wilcken B. Recent advances in newborn screening. J Inherit Metab Dis 2007;30:129-133.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 129-133
-
-
Wilcken, B.1
-
30
-
-
40849118431
-
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency
-
Arnold GL, Koeberl DD, Matern D, et al. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 2008;93:363-370.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 363-370
-
-
Arnold, G.L.1
Koeberl, D.D.2
Matern, D.3
-
31
-
-
60649111860
-
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
-
Arnold GL, Van Hove J, Freedenberg D, et al. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 2009;96:85-90.
-
(2009)
Mol Genet Metab
, vol.96
, pp. 85-90
-
-
Arnold, G.L.1
Van Hove, J.2
Freedenberg, D.3
-
32
-
-
34548507228
-
Structures for clinical follow-up: Newborn screening
-
Howell RR, Engelson G. Structures for clinical follow-up: newborn screening. J Inherit Metab Dis 2007;30:600-605.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 600-605
-
-
Howell, R.R.1
Engelson, G.2
-
33
-
-
3242662769
-
Optimal management of phenylketonuria: A centralized expert team is more successful than a decentralized model of care
-
Camfield CS, Joseph M, Hurley T, Campbell K, Sanderson S, Camfield PR. Optimal management of phenylketonuria: a centralized expert team is more successful than a decentralized model of care. J Pediatr 2004;145:53-57.
-
(2004)
J Pediatr
, vol.145
, pp. 53-57
-
-
Camfield, C.S.1
Joseph, M.2
Hurley, T.3
Campbell, K.4
Sanderson, S.5
Camfield, P.R.6
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