-
1
-
-
0026026265
-
Neonatal screening for cystic fibrosis in Wales and the West Midlands: Clinical assessment after five years of screening
-
Chatfield S, Owen G, Ryley HC, et al. Neonatal screening for cystic fibrosis in Wales and the West Midlands: clinical assessment after five years of screening. Arch Dis Child 1991;66:29-33.
-
(1991)
Arch Dis Child
, vol.66
, pp. 29-33
-
-
Chatfield, S.1
Owen, G.2
Ryley, H.C.3
-
2
-
-
17744372496
-
Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth
-
Farreli PM, Kosorok MR, Rock MJ, et al. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Pediatrics 2001;107:1-13.
-
(2001)
Pediatrics
, vol.107
, pp. 1-13
-
-
Farreli, P.M.1
Kosorok, M.R.2
Rock, M.J.3
-
3
-
-
0004087160
-
-
Washington, D.C.: Government Printing Office. (Publication no. OTAH-345.)
-
U.S. Congress, Office of Technology Assessment. Healthy children: investing in the future. Washington, D.C.: Government Printing Office, 1988. (Publication no. OTAH-345.)
-
(1988)
Healthy Children: Investing in the Future
-
-
-
5
-
-
0035000904
-
Rare diseases and the assessment of intervention: What sorts of clinical trials can we use?
-
Wilcken B. Rare diseases and the assessment of intervention: what sorts of clinical trials can we use? J Inherit Metab Dis 2001; 24:291-8.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 291-298
-
-
Wilcken, B.1
-
6
-
-
0035379737
-
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry
-
abstract
-
Albers S, Marsden D, Quackenbush E, Stark AR, Levy HL, Irons M. Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. Pediatrics 2001;107:1417. abstract.
-
(2001)
Pediatrics
, vol.107
, pp. 1417
-
-
Albers, S.1
Marsden, D.2
Quackenbush, E.3
Stark, A.R.4
Levy, H.L.5
Irons, M.6
-
7
-
-
0002034181
-
The introduction of tandem mass spectrometry into the South Australian neonatal screening programme: Benefits and costs
-
abstract
-
Ranieri E, Gerace R, Bartlett B, Barnard K, Fletcher JM. The introduction of tandem mass spectrometry into the South Australian Neonatal Screening Programme: benefits and costs. J Inherit Metab Dis 2000;23:Suppl 1:3. abstract.
-
(2000)
J Inherit Metab Dis
, vol.23
, Issue.SUPPL. 1
, pp. 3
-
-
Ranieri, E.1
Gerace, R.2
Bartlett, B.3
Barnard, K.4
Fletcher, J.M.5
-
8
-
-
0003158751
-
Prospective study of MS-MS newborn screening in Bavaria, Germany: Interim results
-
abstract
-
Roscher A, Liebl B, Fingerhut R, Olgemöller B. Prospective study of MS-MS newborn screening in Bavaria, Germany: interim results. J Inherit Metab Dis 2000;23:Suppl 1:4. abstract.
-
(2000)
J Inherit Metab Dis
, vol.23
, Issue.SUPPL. 1
, pp. 4
-
-
Roscher, A.1
Liebl, B.2
Fingerhut, R.3
Olgemöller, B.4
-
9
-
-
0002041303
-
Two years of routine newborn screening by tandem mass spectrometry (MSMS) in New South Wales, Australia
-
abstract
-
Wilcken B, Wiley V, Carpenter K. Two years of routine newborn screening by tandem mass spectrometry (MSMS) in New South Wales, Australia. T Inherit Metab Dis 2000;23:Suppl 1:4. abstract.
-
(2000)
T Inherit Metab Dis
, vol.23
, Issue.SUPPL. 1
, pp. 4
-
-
Wilcken, B.1
Wiley, V.2
Carpenter, K.3
-
10
-
-
0035052047
-
Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry
-
Wilcken B, Wiley V, Sim KG, Carpenter K. Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry. J Pediatr 2001;138: 581-4.
-
(2001)
J Pediatr
, vol.138
, pp. 581-584
-
-
Wilcken, B.1
Wiley, V.2
Sim, K.G.3
Carpenter, K.4
-
11
-
-
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;88:45-51.
-
(1999)
Acta Paediatr Suppl
, vol.88
, pp. 45-51
-
-
Wiley, V.1
Carpenter, K.2
Wilcken, B.3
-
12
-
-
0034775820
-
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England newborn screening program
-
Zytkovicz TH, Fitzgerald EF, Marsden D, et al. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem 2001;47: 1945-55.
-
(2001)
Clin Chem
, vol.47
, pp. 1945-1955
-
-
Zytkovicz, T.H.1
Fitzgerald, E.F.2
Marsden, D.3
-
13
-
-
17744413018
-
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card
-
abstract
-
Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card. Pediatrics 2001;108:173-4. abstract.
-
(2001)
Pediatrics
, vol.108
, pp. 173-174
-
-
Wood, J.C.1
Magera, M.J.2
Rinaldo, P.3
Seashore, M.R.4
Strauss, A.W.5
Friedman, A.6
-
14
-
-
0003525651
-
-
Atlanta: Centers for Disease Control and Prevention
-
Dean AG, Dean JA, Coulombier D, et al. Epi Info, version 6: a word processing, database, and statistics program for epidemiology on microcomputers. Atlanta: Centers for Disease Control and Prevention, 1994.
-
(1994)
Epi Info, Version 6: A Word Processing, Database, and Statistics Program for Epidemiology on Microcomputers
-
-
Dean, A.G.1
Dean, J.A.2
Coulombier, D.3
-
15
-
-
0034776654
-
Rapid diagnosis of methylmalonic and propionic acidemias: Quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns
-
Chace DH, DiPerna JC, Kalas TA, Johnson RW, Naylor EW. Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clin Chem 2001;47:2040-4.
-
(2001)
Clin Chem
, vol.47
, pp. 2040-2044
-
-
Chace, D.H.1
DiPerna, J.C.2
Kalas, T.A.3
Johnson, R.W.4
Naylor, E.W.5
-
16
-
-
0035861518
-
Fast technology drives new world of newborn screening
-
Erratum, Science 2002;295:2370
-
Marshall E. Fast technology drives new world of newborn screening. Science 2001; 294:2272-4. [Erratum, Science 2002;295:2370.]
-
(2001)
Science
, vol.294
, pp. 2272-2274
-
-
Marshall, E.1
-
17
-
-
0038323654
-
Short chain acyl-CoA dehydrogenase (SCAD) and 3-methylcrotonyl-CoA carboxylase (MCC) deficiencies: Tandem mass spectrometry newborn screening detects many clinically benign cases
-
abstract
-
Rhead WJ, Allain D, Van Calcar S, et al. Short chain acyl-CoA dehydrogenase (SCAD) and 3-methylcrotonyl-CoA carboxylase (MCC) deficiencies: tandem mass spectrometry newborn screening detects many clinically benign cases. J Inherit Metab Dis 2002;25: Suppl 1:4. abstract.
-
(2002)
J Inherit Metab Dis
, vol.25
, Issue.SUPPL. 1
, pp. 4
-
-
Rhead, W.J.1
Allain, D.2
Van Calcar, S.3
-
18
-
-
0031941232
-
3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children
-
Gibson KM, Bennett MJ, Naylor EW, Morton DH. 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J Pediatr 1998;132:519-23.
-
(1998)
J Pediatr
, vol.132
, pp. 519-523
-
-
Gibson, K.M.1
Bennett, M.J.2
Naylor, E.W.3
Morton, D.H.4
-
19
-
-
0028265830
-
Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children
-
Iafolla AK, Thompson RJ Jr, Roe CR, Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr 1994;124:409-15.
-
(1994)
J Pediatr
, vol.124
, pp. 409-415
-
-
Iafolla, A.K.1
Thompson R.J., Jr.2
Roe, C.R.3
-
20
-
-
0026441002
-
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A→G985 transition
-
Leung KC, Hammond JW, Chabra S, Carpenter KH, Potter M, Wilcken B. A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A→G985 transition. J Pediatr 1992;121: 965-8.
-
(1992)
J Pediatr
, vol.121
, pp. 965-968
-
-
Leung, K.C.1
Hammond, J.W.2
Chabra, S.3
Carpenter, K.H.4
Potter, M.5
Wilcken, B.6
-
22
-
-
0035968582
-
Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency
-
Pourfarzam M, Morris A, Appleton M, Craft A, Bartlett K. Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. Lancet 2001;358:1063-4.
-
(2001)
Lancet
, vol.358
, pp. 1063-1064
-
-
Pourfarzam, M.1
Morris, A.2
Appleton, M.3
Craft, A.4
Bartlett, K.5
-
23
-
-
0002340996
-
The mutational spectrum in the MCAD gene of newborns identified by prospective tandem MS screening for "diagnostic" acyl-carnitines in blood spots differs from that observed in clinically affected patients
-
abstract
-
Andresen BS, Dobrowolski SF, O'Reilly L, et al. The mutational spectrum in the MCAD gene of newborns identified by prospective tandem MS screening for "diagnostic" acyl-carnitines in blood spots differs from that observed in clinically affected patients. J Inherit Metab Dis 2000;23:Suppl 1:12. abstract.
-
(2000)
J Inherit Metab Dis
, vol.23
, Issue.SUPPL. 1
, pp. 12
-
-
Andresen, B.S.1
Dobrowolski, S.F.2
O'Reilly, L.3
-
24
-
-
0034865493
-
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies
-
Carpenter K, Wiley V, Sim KG, Heath D, Wilcken B. Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies. Arch Dis Child Fetal Neonatal Ed 2001;85:F105-F109.
-
(2001)
Arch Dis Child Fetal Neonatal Ed
, vol.85
-
-
Carpenter, K.1
Wiley, V.2
Sim, K.G.3
Heath, D.4
Wilcken, B.5
-
25
-
-
0034924230
-
Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I
-
Schulze A, Frommhold D, Hoffmann GF, Mayatepek E. Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I. Clin Chem 2001;47:1424-9.
-
(2001)
Clin Chem
, vol.47
, pp. 1424-1429
-
-
Schulze, A.1
Frommhold, D.2
Hoffmann, G.F.3
Mayatepek, E.4
-
26
-
-
0032750462
-
Reduction of false negative results in screening of newborns for homocystinuria
-
Peterschmitt MJ, Simmons JR, Levy HL. Reduction of false negative results in screening of newborns for homocystinuria. N Engl J Med 1999;341:1572-6.
-
(1999)
N Engl J Med
, vol.341
, pp. 1572-1576
-
-
Peterschmitt, M.J.1
Simmons, J.R.2
Levy, H.L.3
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