-
1
-
-
0001373172
-
Newborn screening. a blueprint for the future executive summary: Newborn screening task force report
-
Newborn screening. a blueprint for the future executive summary: newborn screening task force report Pediatrics 106 2000 386 388
-
(2000)
Pediatrics
, vol.106
, pp. 386-388
-
-
-
2
-
-
1842486054
-
Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: A relationship between genotype and biochemical phenotype?
-
D.C. Lehotay, J. LePage, J.R. Thompson Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency a relationship between genotype and biochemical phenotype? J Inherit Metab Dis 27 2004 81 88
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 81-88
-
-
Lehotay, D.C.1
Lepage, J.2
Thompson, J.R.3
-
3
-
-
0029809090
-
The introduction of newborn screening for phenylketonuria: A personal history
-
R. Guthrie The introduction of newborn screening for phenylketonuria A personal history Eur J Pediatr 155 suppl 1 1996 S4 S5
-
(1996)
Eur J Pediatr
, vol.155
, Issue.1 SUPPL.
-
-
Guthrie, R.1
-
4
-
-
75449123150
-
A simple phenlyalanine method for detecting phenylketonuria in large populations of newborn infants
-
R. Guthrie, A. Susi A simple phenlyalanine method for detecting phenylketonuria in large populations of newborn infants Pediatrics 32 1963 338 343
-
(1963)
Pediatrics
, vol.32
, pp. 338-343
-
-
Guthrie, R.1
Susi, A.2
-
5
-
-
0031037977
-
Newborn phenylketonuria (PKU) Guthrie (BIA) screening and early hospital discharge
-
W.B. Hanley, H. Demshar, M.A. Preston Newborn phenylketonuria (PKU) Guthrie (BIA) screening and early hospital discharge Early Hum Dev 47 1997 87 96
-
(1997)
Early Hum Dev
, vol.47
, pp. 87-96
-
-
Hanley, W.B.1
Demshar, H.2
Preston, M.A.3
-
6
-
-
0029689402
-
Newborn screening: Principles and practice
-
D.B. Allen, P.M. Farrell Newborn screening principles and practice Adv Pediatr 43 1996 231 270
-
(1996)
Adv Pediatr
, vol.43
, pp. 231-270
-
-
Allen, D.B.1
Farrell, P.M.2
-
8
-
-
0036133045
-
Neonatal biochemical screening for disease
-
A. Clague, A. Thomas Neonatal biochemical screening for disease Clin Chim Acta 315 2002 99 110
-
(2002)
Clin Chim Acta
, vol.315
, pp. 99-110
-
-
Clague, A.1
Thomas, A.2
-
9
-
-
0029846929
-
Newborn screening fact sheets
-
American Academy of Pediatrics, Committee on Genetics
-
American Academy of Pediatrics, Committee on Genetics Newborn screening fact sheets Pediatrics 98 1996 473 501
-
(1996)
Pediatrics
, vol.98
, pp. 473-501
-
-
-
10
-
-
0025346830
-
Results of newborn screening for galactose metabolic disorders
-
B. Inoue, M. Hata, Y. Ichiba Results of newborn screening for galactose metabolic disorders J Inherit Metab Dis 13 1990 93 101
-
(1990)
J Inherit Metab Dis
, vol.13
, pp. 93-101
-
-
Inoue, B.1
Hata, M.2
Ichiba, Y.3
-
11
-
-
0038042122
-
Newborn screening: An overview
-
E. Carreiro-Lewandowski Newborn screening an overview Clin Lab Sci 15 2002 229 238
-
(2002)
Clin Lab Sci
, vol.15
, pp. 229-238
-
-
Carreiro-Lewandowski, E.1
-
12
-
-
0027434061
-
Transient neonatal galactosaemia identified by newborn screening
-
L.J. Raffel, T.M. Cowan, M.G. Blitzer Transient neonatal galactosaemia identified by newborn screening J Inherit Metab Dis 16 1993 894 895
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 894-895
-
-
Raffel, L.J.1
Cowan, T.M.2
Blitzer, M.G.3
-
14
-
-
0031784140
-
Tandem spectrometry in newborn screening
-
M.R. Seashore Tandem spectrometry in newborn screening Curr Opin Pediatr 10 1998 609 614
-
(1998)
Curr Opin Pediatr
, vol.10
, pp. 609-614
-
-
Seashore, M.R.1
-
15
-
-
4644362538
-
Expanded newborn screening using tandem mass spectrometry
-
M.K. Fearing, H.L. Levy Expanded newborn screening using tandem mass spectrometry Adv Pediatr 50 2003 81 111
-
(2003)
Adv Pediatr
, vol.50
, pp. 81-111
-
-
Fearing, M.K.1
Levy, H.L.2
-
17
-
-
38849122363
-
Newborn screening. toward a uniform screening panel and system
-
Newborn screening. toward a uniform screening panel and system Report for Public Comment 2005 Available at: http://www.mchb.hrsa.gov/screening. Accessed March 8
-
(2005)
Report for Public Comment
-
-
-
18
-
-
0034794064
-
U.S. newborn screening policy dilemmas for the twenty-first century
-
B.L. Therrell Jr U.S. newborn screening policy dilemmas for the twenty-first century Mol Genet Metab 74 2001 64 74
-
(2001)
Mol Genet Metab
, vol.74
, pp. 64-74
-
-
Therrell, B.L.1
Jr2
-
19
-
-
0036304670
-
Inherited disorders of mitochondrial fatty acid oxidation: A new responsibility for the neonatologist
-
C.R. Roe Inherited disorders of mitochondrial fatty acid oxidation a new responsibility for the neonatologist Semin Neonatol 7 2002 37 47
-
(2002)
Semin Neonatol
, vol.7
, pp. 37-47
-
-
Roe, C.R.1
-
20
-
-
0035434349
-
Survey of pediatrician practices in retrieving statewide authorized newborn screening results
-
F. Desposito, M.A. Lloyd-Puryear, T.F. Tonniges Survey of pediatrician practices in retrieving statewide authorized newborn screening results Pediatrics 108 2001 E22
-
(2001)
Pediatrics
, vol.108
, pp. 22
-
-
Desposito, F.1
Lloyd-Puryear, M.A.2
Tonniges, T.F.3
-
21
-
-
0037313310
-
Examination of the communication practices between state newborn screening programs and the medical home
-
S. Kim, M.A. Lloyd-Puryear, T.F. Tonniges Examination of the communication practices between state newborn screening programs and the medical home Pediatrics 111 2003 E120 E126
-
(2003)
Pediatrics
, vol.111
-
-
Kim, S.1
Lloyd-Puryear, M.A.2
Tonniges, T.F.3
-
22
-
-
0001373172
-
Serving the family from birth to the medical home. Newborn screening. a blueprint for the future-a call for a national agenda on state newborn screening programs
-
Serving the family from birth to the medical home. Newborn screening. a blueprint for the future-a call for a national agenda on state newborn screening programs Pediatrics 106 2000 389 422
-
(2000)
Pediatrics
, vol.106
, pp. 389-422
-
-
-
23
-
-
0036405455
-
The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism
-
D.H. Chace, T.A. Kalas, E.W. Naylor The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism Annu Rev Genom Hum Genet 3 2002 17 45
-
(2002)
Annu Rev Genom Hum Genet
, vol.3
, pp. 17-45
-
-
Chace, D.H.1
Kalas, T.A.2
Naylor, E.W.3
-
25
-
-
0036774376
-
The changing face of newborn screening: Diagnosis of inborn errors of metabolism by tandem mass spectrometry
-
P.M. Jones, M.J. Bennett The changing face of newborn screening diagnosis of inborn errors of metabolism by tandem mass spectrometry Clin Chim Acta 324 2002 121 128
-
(2002)
Clin Chim Acta
, vol.324
, pp. 121-128
-
-
Jones, P.M.1
Bennett, M.J.2
-
26
-
-
0033224545
-
Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review
-
S.S. Wang, P.M. Fernhoff, W.H. Hannon Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review Genet Med 1 1999 332 339
-
(1999)
Genet Med
, vol.1
, pp. 332-339
-
-
Wang, S.S.1
Fernhoff, P.M.2
Hannon, W.H.3
-
27
-
-
0034985656
-
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency
-
B.S. Andresen, S.F. Dobrowolski, L. O'Reilly Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency Am J Hum Genet 68 2001 1408 1418
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1408-1418
-
-
Andresen, B.S.1
Dobrowolski, S.F.2
O'Reilly, L.3
-
28
-
-
0030869743
-
Multiple carboxylase deficiency: Inherited and acquired disorders of biotin metabolism
-
E.R. Baumgartner, T. Suormala Multiple carboxylase deficiency inherited and acquired disorders of biotin metabolism Int J Vitam Nutr Res 67 1997 377 384
-
(1997)
Int J Vitam Nutr Res
, vol.67
, pp. 377-384
-
-
Baumgartner, E.R.1
Suormala, T.2
-
29
-
-
0032804671
-
Delayed diagnosis of fatal medium-chain acyl-CoA dehydrogenase deficiency in a child
-
A.K. Shetty, R.D. Craver, J.A. Harris Delayed diagnosis of fatal medium-chain acyl-CoA dehydrogenase deficiency in a child Pediatr Emerg Care 15 1999 399 401
-
(1999)
Pediatr Emerg Care
, vol.15
, pp. 399-401
-
-
Shetty, A.K.1
Craver, R.D.2
Harris, J.A.3
-
30
-
-
0028899006
-
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unexpected mutation frequencies
-
R. Ziadeh, E.P. Hoffman, D.N. Finegold Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania neonatal screening shows high incidence and unexpected mutation frequencies Pediatr Res 37 1995 675 678
-
(1995)
Pediatr Res
, vol.37
, pp. 675-678
-
-
Ziadeh, R.1
Hoffman, E.P.2
Finegold, D.N.3
-
31
-
-
0242362630
-
Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns
-
D.H. Chace, T.A. Kalas, E.W. Naylor Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns Clin Chem 49 2003 1797 1817
-
(2003)
Clin Chem
, vol.49
, pp. 1797-1817
-
-
Chace, D.H.1
Kalas, T.A.2
Naylor, E.W.3
-
32
-
-
0034865493
-
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275,000 babies
-
K. Carpenter, V. Wiley, K.G. Sim Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275,000 babies Arch Dis Child Fetal Neonatal Ed 85 2001 F105 F109
-
(2001)
Arch Dis Child Fetal Neonatal Ed
, vol.85
-
-
Carpenter, K.1
Wiley, V.2
Sim, K.G.3
-
33
-
-
0036288945
-
Application of tandem mass spectrometry to biochemical genetics and newborn screening
-
K.H. Carpenter, V. Wiley Application of tandem mass spectrometry to biochemical genetics and newborn screening Clin Chim Acta 322 2002 1 10
-
(2002)
Clin Chim Acta
, vol.322
, pp. 1-10
-
-
Carpenter, K.H.1
Wiley, V.2
-
34
-
-
0034521895
-
Disorders of fatty acid transport and mitochondrial oxidation: Challenges and dilemmas of metabolic evaluation
-
P. Rinaldo, D. Matern Disorders of fatty acid transport and mitochondrial oxidation challenges and dilemmas of metabolic evaluation Genet Med 2 2000 338 344
-
(2000)
Genet Med
, vol.2
, pp. 338-344
-
-
Rinaldo, P.1
Matern, D.2
-
35
-
-
0036799518
-
Newborn screening with tandem mass spectrometry: Examining its cost-effectiveness in the Wisconsin Newborn Screening Panel
-
R.P. Insinga, R.H. Laessig, G.L. Hoffman Newborn screening with tandem mass spectrometry examining its cost-effectiveness in the Wisconsin Newborn Screening Panel J Pediatr 141 2002 524 531
-
(2002)
J Pediatr
, vol.141
, pp. 524-531
-
-
Insinga, R.P.1
Laessig, R.H.2
Hoffman, G.L.3
-
36
-
-
3442875863
-
Recent developments and new applications of tandem mass spectrometry in newborn screening
-
P. Rinaldo, S. Tortorelli, D. Matern Recent developments and new applications of tandem mass spectrometry in newborn screening Curr Opin Pediatr 16 2004 427 433
-
(2004)
Curr Opin Pediatr
, vol.16
, pp. 427-433
-
-
Rinaldo, P.1
Tortorelli, S.2
Matern, D.3
-
37
-
-
21344461974
-
Newborn screening for tyrosinemia type I: First experience with a two-tiered approach
-
D. Matern, M.J. Magera, N. Gunawardena Newborn screening for tyrosinemia type I first experience with a two-tiered approach Mol Genet Metab 84 2005 230
-
(2005)
Mol Genet Metab
, vol.84
, pp. 230
-
-
Matern, D.1
Magera, M.J.2
Gunawardena, N.3
-
38
-
-
0036303789
-
Management and emergency treatments of neonates with a suspicion of inborn errors of metabolism
-
H. Ogier de Baulny Management and emergency treatments of neonates with a suspicion of inborn errors of metabolism Semin Neonatol 7 2002 17 26
-
(2002)
Semin Neonatol
, vol.7
, pp. 17-26
-
-
Ogier De Baulny, H.1
-
39
-
-
0344081182
-
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
-
S.E. Waisbren, S. Albers, S. Amato Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress J Am Med Assoc 290 2003 2564 2572
-
(2003)
J Am Med Assoc
, vol.290
, pp. 2564-2572
-
-
Waisbren, S.E.1
Albers, S.2
Amato, S.3
-
41
-
-
13144253117
-
Neonatal screening by DNA microarray: Spots and chips
-
N.S. Green, K.A. Pass Neonatal screening by DNA microarray spots and chips Nat Rev Genet 6 2005 147 151
-
(2005)
Nat Rev Genet
, vol.6
, pp. 147-151
-
-
Green, N.S.1
Pass, K.A.2
-
42
-
-
18244389201
-
Standardizing global gene expression analysis between laboratories and across platforms
-
B.K. Weis Standardizing global gene expression analysis between laboratories and across platforms Nat Methods 2 2005 351 356
-
(2005)
Nat Methods
, vol.2
, pp. 351-356
-
-
Weis, B.K.1
-
43
-
-
4544345160
-
Diagnosis of lysosomal storage disorders: Current techniques and future directions
-
P.J. Meikle, M.J. Fietz, J.J. Hopwood Diagnosis of lysosomal storage disorders current techniques and future directions Expert Rev Mol Diagn 4 2004 677 691
-
(2004)
Expert Rev Mol Diagn
, vol.4
, pp. 677-691
-
-
Meikle, P.J.1
Fietz, M.J.2
Hopwood, J.J.3
-
44
-
-
4544322158
-
Psychosocial aspects of genetic screening of pregnant women and newborns: A systematic review
-
J.M. Green, J. Hewison, H.L. Bekker Psychosocial aspects of genetic screening of pregnant women and newborns a systematic review Health Technol Assess 8 2004 1 109 iii,ix-x
-
(2004)
Health Technol Assess 8
, pp. 1-109
-
-
Green, J.M.1
Hewison, J.2
Bekker, H.L.3
-
45
-
-
84921705196
-
Disclosing to parents newborn carrier status identified by routine blood spot screening
-
S. Oliver, C. Dezateux, J. Kavanagh Disclosing to parents newborn carrier status identified by routine blood spot screening Cochrane Database Syst Rev 18 2004 CD003859
-
(2004)
Cochrane Database Syst Rev
, vol.18
-
-
Oliver, S.1
Dezateux, C.2
Kavanagh, J.3
-
46
-
-
0036016988
-
Addressing consumer grievances in medicine: Policies and practices of newborn screening programs in the United States
-
M.R. Natowicz, E.H. Hiller Addressing consumer grievances in medicine policies and practices of newborn screening programs in the United States Genet Test 6 2002 31 38
-
(2002)
Genet Test
, vol.6
, pp. 31-38
-
-
Natowicz, M.R.1
Hiller, E.H.2
-
47
-
-
0030069010
-
Newborn screening for sickle cell disease: 4 years of experience from California's newborn screening program
-
F.E. Shafer, F. Lorey, G.C. Cunningham Newborn screening for sickle cell disease 4 years of experience from California's newborn screening program J Pediatr Hematol Oncol 18 1996 36 41 [see comments]
-
(1996)
J Pediatr Hematol Oncol
, vol.18
, pp. 36-41
-
-
Shafer, F.E.1
Lorey, F.2
Cunningham, G.C.3
-
48
-
-
0347320491
-
Ethical issues in newborn screening and the impact of new technologies
-
B. Wilcken Ethical issues in newborn screening and the impact of new technologies Eur J Pediatr 162 suppl 1 2003 S62 S66
-
(2003)
Eur J Pediatr
, vol.162
, Issue.1 SUPPL.
-
-
Wilcken, B.1
-
49
-
-
0036164288
-
Newborn screening program practices in the United States: Notification, research, and consent
-
K.D. Mandl, S. Feit, C. Larson Newborn screening program practices in the United States notification, research, and consent Pediatrics 109 2002 269 273
-
(2002)
Pediatrics
, vol.109
, pp. 269-273
-
-
Mandl, K.D.1
Feit, S.2
Larson, C.3
-
50
-
-
21344464290
-
-
ACGME.
-
ACGME. Available at: http://www.acgme.org/acwebsite/irc/irc_compIntro. asp. Accessed May 27, 2005
-
-
-
-
51
-
-
84872205501
-
Organic acidemias. An overview. Updated 12/2003
-
Copyright, University of Washington, Seattle
-
Organic acidemias. an overview. Updated 12/2003. GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle, 1997-2004. Available at: http://www. genetests.org. Accessed March 13, 2004
-
(1997)
GeneReviews at GeneTests: Medical Genetics Information Resource (Database Online)
-
-
-
52
-
-
0035139916
-
Laboratory evaluation of urea cycle disorders
-
R.D. Steiner, S.D. Cederbaum Laboratory evaluation of urea cycle disorders J Pediatr 138 suppl 1 2001 S21 S29
-
(2001)
J Pediatr
, vol.138
, Issue.1 SUPPL.
-
-
Steiner, R.D.1
Cederbaum, S.D.2
-
53
-
-
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
-
T.H. Zytkovicz, E.F. Fitzgerald, D. Marsden 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 47 2001 1945 1955
-
(2001)
Clin Chem
, vol.47
, pp. 1945-1955
-
-
Zytkovicz, T.H.1
Fitzgerald, E.F.2
Marsden, D.3
-
54
-
-
4644273798
-
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening
-
Y. Li, C.R. Scott, N.A. Chamoles Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening Clin Chem 50 2004 1785 1796
-
(2004)
Clin Chem
, vol.50
, pp. 1785-1796
-
-
Li, Y.1
Scott, C.R.2
Chamoles, N.A.3
|