-
1
-
-
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, et al. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics. 2003;111(6 pt 1):1399-1406
-
(2003)
Pediatrics
, vol.111
, Issue.6 PART 1
, pp. 1399-1406
-
-
Schulze, A.1
Lindner, M.2
Kohlmüller, D.3
-
2
-
-
0344081182
-
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
-
Waisbren SE, Albers S, Amato S. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003;290(19):2564-2572
-
(2003)
JAMA
, vol.290
, Issue.19
, pp. 2564-2572
-
-
Waisbren, S.E.1
Albers, S.2
Amato, S.3
-
3
-
-
21144446866
-
Reduced incidence of severe metabolic crisis or death in children with medium-chain acyl-CoA dehydrogenase deficiency homozygous for c. 985A>G identified by neonatal screening
-
Nennstiel-Ratzel U, Arenz S, Maier EM, et al. Reduced incidence of severe metabolic crisis or death in children with medium-chain acyl-CoA dehydrogenase deficiency homozygous for c. 985A>G identified by neonatal screening. Mol Genet Metab. 2005;85(2):157-159
-
(2005)
Mol Genet Metab
, vol.85
, Issue.2
, pp. 157-159
-
-
Nennstiel-Ratzel, U.1
Arenz, S.2
Maier, E.M.3
-
4
-
-
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(9555):37-42
-
(2007)
Lancet
, vol.369
, Issue.9555
, pp. 37-42
-
-
Wilcken, B.1
Haas, M.2
Joy, P.3
-
5
-
-
33746865225
-
Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease
-
Simon E, Fingerhut R, Baumkötter J, Konstantopoulou V, Ratschmann R, Wendel U. Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease. J Inherit Metab Dis. 2006;29(4):527-532
-
(2006)
J Inherit Metab Dis
, vol.29
, Issue.4
, pp. 527-532
-
-
Simon, E.1
Fingerhut, R.2
Baumkötter, J.3
Konstantopoulou, V.4
Ratschmann, R.5
Wendel, U.6
-
6
-
-
0042508736
-
Type I glutaric aciduria, part 1: Natural history of 77 patients
-
Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet. 2003;121C(1):38 -52
-
(2003)
Am J Med Genet C Semin Med Genet
, vol.121 C
, Issue.1
, pp. 38-52
-
-
Strauss, K.A.1
Puffenberger, E.G.2
Robinson, D.L.3
Morton, D.H.4
-
7
-
-
34548128809
-
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany
-
Kölker S, Garbade SF, Boy N, et al. Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res. 2007;62(3):357-363
-
(2007)
Pediatr Res
, vol.62
, Issue.3
, pp. 357-363
-
-
Kölker, S.1
Garbade, S.F.2
Boy, N.3
-
8
-
-
44649092555
-
Newborn screening for glutaric aciduria type I in Victoria: Treatment and outcome
-
Boneh A, Beauchamp M, Humphrey M, Watkins J, Peters H, Yaplito-Lee J. Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome. Mol Genet Metab. 2008;94(3):287-291
-
(2008)
Mol Genet Metab
, vol.94
, Issue.3
, pp. 287-291
-
-
Boneh, A.1
Beauchamp, M.2
Humphrey, M.3
Watkins, J.4
Peters, H.5
Yaplito-Lee, J.6
-
9
-
-
50149090021
-
Glutaric aciduria type I: Outcome following detection by newborn screening
-
Bijarnia S, Wiley V, Carpenter K, Christodoulou J, Ellaway CJ, Wilcken B. Glutaric aciduria type I: outcome following detection by newborn screening. J Inherit Metab Dis. 2008;31(4):503-507
-
(2008)
J Inherit Metab Dis
, vol.31
, Issue.4
, pp. 503-507
-
-
Bijarnia, S.1
Wiley, V.2
Carpenter, K.3
Christodoulou, J.4
Ellaway, C.J.5
Wilcken, B.6
-
10
-
-
33645668108
-
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005
-
Frazier DM, Millington DS, McCandless SE, et al. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J Inherit Metab Dis. 2006;29(1):76-85
-
(2006)
J Inherit Metab Dis
, vol.29
, Issue.1
, pp. 76-85
-
-
Frazier, D.M.1
Millington, D.S.2
McCandless, S.E.3
-
11
-
-
60849136588
-
International perspectives on the cost-effectiveness of tandem mass spectrometry for rare metabolic conditions
-
Norman R, Haas M, Wilcken B. International perspectives on the cost-effectiveness of tandem mass spectrometry for rare metabolic conditions. Health Policy. 2009;89(3):252-260
-
(2009)
Health Policy
, vol.89
, Issue.3
, pp. 252-260
-
-
Norman, R.1
Haas, M.2
Wilcken, B.3
-
12
-
-
0033406297
-
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia
-
Wiley V, Carpenter K, Wilcken B. Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia. Acta Paediatr Suppl. 1999;88(432):48-51
-
(1999)
Acta Paediatr Suppl
, vol.88
, Issue.432
, pp. 48-51
-
-
Wiley, V.1
Carpenter, K.2
Wilcken, B.3
-
14
-
-
33746950960
-
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: Population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
-
Stadler SC, Polanetz R, Maier EM, et al. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Hum Mutat. 2006;27(8):748-759
-
(2006)
Hum Mutat
, vol.27
, Issue.8
, pp. 748-759
-
-
Stadler, S.C.1
Polanetz, R.2
Maier, E.M.3
-
15
-
-
0037240025
-
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I
-
Ly TB, Peters V, Gibson KM, et al. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat. 2003;21(4):401-407
-
(2003)
Hum Mutat
, vol.21
, Issue.4
, pp. 401-407
-
-
Ly, T.B.1
Peters, V.2
Gibson, K.M.3
-
16
-
-
56149106170
-
Short-chain acyl-coenzyme A dehydrogenase deficiency
-
Jethva R, Bennett MJ, Vockley J. Short-chain acyl-coenzyme A dehydrogenase deficiency. Mol Genet Metab. 2008;95(4):195-200
-
(2008)
Mol Genet Metab
, vol.95
, Issue.4
, pp. 195-200
-
-
Jethva, R.1
Bennett, M.J.2
Vockley, J.3
-
17
-
-
0037685217
-
Screening newborns for inborn errors of metabolism by tandem mass spectrometry
-
Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med. 2003;348(23):2304-2312
-
(2003)
N Engl J Med
, vol.348
, Issue.23
, pp. 2304-2312
-
-
Wilcken, B.1
Wiley, V.2
Hammond, J.3
Carpenter, K.4
-
18
-
-
33947625937
-
Newborn screening may fail to identify intermediate forms of maple syrup urine disease
-
Bhattacharya K, Khalili V, Wiley V, Carpenter K, Wilcken B. Newborn screening may fail to identify intermediate forms of maple syrup urine disease. J Inherit Metab Dis. 2006;29(4):586
-
(2006)
J Inherit Metab Dis
, vol.29
, Issue.4
, pp. 586
-
-
Bhattacharya, K.1
Khalili, V.2
Wiley, V.3
Carpenter, K.4
Wilcken, B.5
-
19
-
-
0142216257
-
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1)
-
Häberle J, Pauli S, Schmidt E, Schulze-Eilfing B, Berning C, Koch HG. Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). Mol Genet Metab. 2003;80(3):302-306
-
(2003)
Mol Genet Metab
, vol.80
, Issue.3
, pp. 302-306
-
-
Häberle, J.1
Pauli, S.2
Schmidt, E.3
Schulze-Eilfing, B.4
Berning, C.5
Koch, H.G.6
-
20
-
-
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(6):1136-1142
-
(2004)
Am J Hum Genet
, vol.75
, Issue.6
, pp. 1136-1142
-
-
Ensenauer, R.1
Vockley, J.2
Willard, J.M.3
-
21
-
-
33744784588
-
Newborn screening: Toward a uniform screening panel and system - executive summary
-
American College of Medical Genetics Newborn Screening Expert Group
-
American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system - executive summary. Pediatrics. 2006;117(5 pt 2):S296-S307
-
(2006)
Pediatrics
, vol.117
, Issue.5 PART 2
-
-
-
22
-
-
33745095968
-
International perspectives on newborn screening
-
Pollitt RJ. International perspectives on newborn screening. J Inherit Metab Dis. 2006;29(2-3): 390-396
-
(2006)
J Inherit Metab Dis
, vol.29
, Issue.2-3
, pp. 390-396
-
-
Pollitt, R.J.1
-
23
-
-
61549130602
-
Economic evaluation of tandem mass spectrometry newborn screening in Australia
-
Norman R, Haas M, Chaplin M, Joy P, Wilcken B. Economic evaluation of tandem mass spectrometry newborn screening in Australia. Pediatrics. 2009;123(2):451-457
-
(2009)
Pediatrics
, vol.123
, Issue.2
, pp. 451-457
-
-
Norman, R.1
Haas, M.2
Chaplin, M.3
Joy, P.4
Wilcken, B.5
-
24
-
-
33845972665
-
Making the case for objective performance metrics in newborn screening by tandem mass spectrometry
-
Rinaldo P, Zafari S, Tortorelli S, Matern D. Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. Ment Retard Dev Disabil Res Rev. 2006;12(4): 255-261
-
(2006)
Ment Retard Dev Disabil Res Rev
, vol.12
, Issue.4
, pp. 255-261
-
-
Rinaldo, P.1
Zafari, S.2
Tortorelli, S.3
Matern, D.4
|