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1
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3442884994
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Newborn screening: Opportunities and challenges of tandem mass spectrometry
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Matern D, Rinaldo P: Newborn screening: opportunities and challenges of tandem mass spectrometry. Clin Lab News 2003, 29:12-15.
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(2003)
Clin Lab News
, vol.29
, pp. 12-15
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Matern, D.1
Rinaldo, P.2
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2
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0034916388
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Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: A retrospective study
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Jensen UG, Brandt NJ, Christensen E, et al.: Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study. Clin Chem 2001, 47:1364-1372.
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Clin Chem
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, pp. 1364-1372
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Jensen, U.G.1
Brandt, N.J.2
Christensen, E.3
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3
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10744226079
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Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry
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Lacey J, Minutti CZ, Magera MJ, et al.: Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem 2004, 50:621-625. Report of a new method that can eliminate approximately 90% of false positive results caused by stress, prematurity, and antibody cross-reactivity.
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(2004)
Clin Chem
, vol.50
, pp. 621-625
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Lacey, J.1
Minutti, C.Z.2
Magera, M.J.3
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4
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0242362630
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Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns
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Chace DH, Kalas TA, Naylor EW: Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem 2003, 49:1797-1817. This is a comprehensive and informative review on the subject of MS/MS and newborn screening.
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(2003)
Clin Chem
, vol.49
, pp. 1797-1817
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Chace, D.H.1
Kalas, T.A.2
Naylor, E.W.3
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5
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0037413486
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Population screening in the age of genomic medicine
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Khoury MJ, McCabe L, McCabe ERB: Population screening in the age of genomic medicine. N Engl J Med 2003, 348:50-58.
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(2003)
N Engl J Med
, vol.348
, pp. 50-58
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Khoury, M.J.1
McCabe, L.2
McCabe, E.R.B.3
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6
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3442885292
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National Newborn Screening Genetic Resources Center web site
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National Newborn Screening Genetic Resources Center web site: http://genes-r-us.uthscsa.edu
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7
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0037685217
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Screening for newborn errors of metabolism by tandem mass spectrometry
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Wilcken B, Wiley V, Hammond J, et al.: Screening for newborn errors of metabolism by tandem mass spectrometry. N Engl J Med 2003, 348:2304-2312. An elegantly designed outcome study made possible by the centralized provision of laboratory and clinical services in New South Wales, Australia.
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(2003)
N Engl J Med
, vol.348
, pp. 2304-2312
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Wilcken, B.1
Wiley, V.2
Hammond, J.3
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8
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0037639877
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Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Results, outcome, and implications
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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, 111:1399-1406. Good outcome study in a region at the forefront of newborn screening by MS/MS.
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(2003)
Pediatrics
, vol.111
, pp. 1399-1406
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Schulze, A.1
Lindner, M.2
Kohlmüller, D.3
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9
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10744220156
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Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany
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Hoffman GF, von Kries R, Klose D, et al.: Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany. Eur J Pediatr 2004, 163:76-80.
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Eur J Pediatr
, vol.163
, pp. 76-80
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Hoffman, G.F.1
Von Kries, R.2
Klose, D.3
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10
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0344081182
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Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
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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. This is a valuable contribution to the understanding of the unintended consequences of expanded newborn screening, particularly the negative impact of false positive results.
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(2003)
JAMA
, vol.290
, pp. 2564-2572
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Waisbren, S.E.1
Albers, S.2
Amato, S.3
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11
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0036271223
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High-throughput analysis of hemoglobin from neonates using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry
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Kiernan UA, Black JA, Williams P, et al.: High-throughput analysis of hemoglobin from neonates using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Clin Chem 2002, 48:947-949.
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Clin Chem
, vol.48
, pp. 947-949
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Kiernan, U.A.1
Black, J.A.2
Williams, P.3
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12
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1542299000
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Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: Application to newborn screening for Krabbe disease
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Li Y, Brockmann K, Turecek F, et al.: Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. Clin Chem 2004, 50:638-640. A new method for the determination of galactocerebroside β-galactosidase in neonatal blood spots.
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(2004)
Clin Chem
, vol.50
, pp. 638-640
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Li, Y.1
Brockmann, K.2
Turecek, F.3
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13
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0346059334
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Lysosomal storage disorders: Emerging therapeutic options require early diagnosis
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Meikle PJ, Hopwood JJ: Lysosomal storage disorders: emerging therapeutic options require early diagnosis. Eur J Pediatr 2003, 162(Suppl 1):S34-S37. A recent contribution from the leading group in the field of lysosomal storage disease screening.
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(2003)
Eur J Pediatr
, vol.162
, Issue.1 SUPPL.
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Meikle, P.J.1
Hopwood, J.J.2
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14
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3442878589
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Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia
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in press
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Minutti CZ, Lacey JM, Magera MJ, et al.: Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 2004, in press.
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(2004)
J Clin Endocrinol Metab
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Minutti, C.Z.1
Lacey, J.M.2
Magera, M.J.3
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15
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0036299910
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Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
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Saheki T, Kobayashi K: Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet 2002, 47:333-341.
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J Hum Genet
, vol.47
, pp. 333-341
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Saheki, T.1
Kobayashi, K.2
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16
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0038632034
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A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: Neonatal intrahepatic cholestasis caused by citrin deficiency
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Ohura T, Kobayashi K, Abukawa D, et al.: A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency. Eur J Pediatr 2003, 162:317-322. An interesting study that uncovers likely diagnostic oversight of a recently described metabolic defect.
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(2003)
Eur J Pediatr
, vol.162
, pp. 317-322
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Ohura, T.1
Kobayashi, K.2
Abukawa, D.3
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17
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0028078632
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A new encephalopathy with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts
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Burlina AB, Dionisi-Vici C, Bennett MJ, et al.: A new encephalopathy with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr 1994, 124:79-86.
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J Pediatr
, vol.124
, pp. 79-86
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Burlina, A.B.1
Dionisi-Vici, C.2
Bennett, M.J.3
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18
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10744232283
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Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein
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Tiranti V, D'Adamo P, Briem E, et al.: Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet 2004, 74:239-252. The characterization of a new mitochondrial disorder presenting with a very complex clinical phenotype. This discovery is likely to pave the way to the understanding of a previously unknown metabolic pathway.
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Am J Hum Genet
, vol.74
, pp. 239-252
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Tiranti, V.1
D'Adamo, P.2
Briem, E.3
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19
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2342635158
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The role of methionine in ethylmalonic encephalopathy with petechiae
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McGowan KA, Nyhan WL, Barshop BA, et al.: The role of methionine in ethylmalonic encephalopathy with petechiae. Arch Neurol 2004, 61:570-574. A potential breakthrough in the understanding of the primary defect of ethylmalonic encephalopathy.
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Arch Neurol
, vol.61
, pp. 570-574
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McGowan, K.A.1
Nyhan, W.L.2
Barshop, B.A.3
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20
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0032430115
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Isolated isobutyryl-CoA dehydrogenase deficiency: An unrecognized defect in human valine metabolism
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Roe CR, Cederbaum SD, Roe DS, et al.: Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. Mol Genet Metab 1998, 65:264-271.
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Mol Genet Metab
, vol.65
, pp. 264-271
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Roe, C.R.1
Cederbaum, S.D.2
Roe, D.S.3
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21
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10744220582
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Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectroscopy newborn screening
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Koeberl DD, Young SP, Gregersen N, et al.: Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectroscopy newborn screening. Pediatr Res 2003, 54:219-223. A valuable contribution to the differential diagnosis of uncommon disorders.
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Pediatr Res
, vol.54
, pp. 219-223
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Koeberl, D.D.1
Young, S.P.2
Gregersen, N.3
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22
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0034121032
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2-Methylbutyryl-coenzyme a dehydrogenase deficiency: A new inborn error of L-isoleucine metabolism
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Gibson KM, Terry G, Burlingame TG: 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res 2000, 47:830-833.
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Pediatr Res
, vol.47
, pp. 830-833
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Gibson, K.M.1
Terry, G.2
Burlingame, T.G.3
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23
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0038757594
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Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry
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Matern D, He M, Berry SA, et al.: Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics 2003, 112:74-78. Report of the high incidence in the Hmong population of an otherwise extremely rare disorder.
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(2003)
Pediatrics
, vol.112
, pp. 74-78
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Matern, D.1
He, M.2
Berry, S.A.3
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24
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0037389601
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4-acylcarnitine concentration in newborn blood spots
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4-acylcarnitine concentration in newborn blood spots. Mol Genet Metab 2003, 78:239-246. A valuable contribution to the understanding of a poorly understood condition.
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(2003)
Mol Genet Metab
, vol.78
, pp. 239-246
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Nagan, N.1
Kruckeberg, K.E.2
Tauscher, A.L.3
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25
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0035193285
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Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency
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Corydon MJ, Vockley J, Rinaldo P, et al.: Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 2001, 49:18-23.
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Pediatr Res
, vol.49
, pp. 18-23
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Corydon, M.J.1
Vockley, J.2
Rinaldo, P.3
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26
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0242300655
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Short-chain acyl-CoA dehydrogenase deficiency: Studies in a large family adding to the complexity of the disorder
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Bok LA, Vreken P, Wijburg FA, et al.: Short-chain acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics 2003, 112:1152-1155.
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(2003)
Pediatrics
, vol.112
, pp. 1152-1155
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Bok, L.A.1
Vreken, P.2
Wijburg, F.A.3
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27
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84945259193
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Medium-chain acyl-coenzyme A dehydrogenase deficiency
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database online: Last update January 27, Copyright, University of Washington, Seattle
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Matern D, Rinaldo P: Medium-chain acyl-coenzyme A dehydrogenase deficiency. In: GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics [database online: Last update January 27, 2003]. Copyright, University of Washington, Seattle. Available at http://www. geneclinics.org.
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GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics
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Matern, D.1
Rinaldo, P.2
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28
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0034985656
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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
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Andresen BS, Dobrowolski SF, O'Reilly L, et al.: 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 2001, 68:1408-1418.
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Am J Hum Genet
, vol.68
, pp. 1408-1418
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Andresen, B.S.1
Dobrowolski, S.F.2
O'Reilly, L.3
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29
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1842486054
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Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: A relationship between genotype and biochemical phenotype?
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Lehotay DC, LePage J, Thompson JR, et al.: 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 2004, 27:81-88. A valuable contribution to the debate on the existence, or not, of genotype/phenotype correlations in a disorder that is greatly influenced by diet and environment.
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(2004)
J Inherit Metab Dis
, vol.27
, pp. 81-88
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Lehotay, D.C.1
LePage, J.2
Thompson, J.R.3
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31
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0141615880
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MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency
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Spiekerkoetter U, Sun B, Zytkovicz T, et al.: MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr 2003, 143:335-342. An example of the impact of newborn screening on our understanding of the natural history of a genetic condition.
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(2003)
J Pediatr
, vol.143
, pp. 335-342
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Spiekerkoetter, U.1
Sun, B.2
Zytkovicz, T.3
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32
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3442886697
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Novel phenotype of isovaleric acidemia associated with a common mutation identified in patients diagnosed by newborn screening
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abstract
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Ensenauer RE, Vockley J, Grünert S, et al.: Novel phenotype of isovaleric acidemia associated with a common mutation identified in patients diagnosed by newborn screening. Mol Genet Metab 2004, 81:160-161 [abstract]. An example of the impact of newborn screening on our understanding of the natural history of a genetic condition.
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(2004)
Mol Genet Metab
, vol.81
, pp. 160-161
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Ensenauer, R.E.1
Vockley, J.2
Grünert, S.3
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33
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17344383506
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Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: A systematic review
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Pandor A, Eastham J, Beverley C, et al.: 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(12). A vast overview of the clinical and financial aspects of expanded newborn screening.
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(2004)
Health Technol Assess
, vol.8
, Issue.12
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Pandor, A.1
Eastham, J.2
Beverley, C.3
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35
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0141794232
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Opinion No. 287: Newborn screening
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American College of Obstetricians and Gynecologists Committee on Genetics: Opinion No. 287: Newborn screening. Obstet Gynecol 2003, 102:887-889.
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Obstet Gynecol
, vol.102
, pp. 887-889
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36
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3442880040
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Newborn screening: Future promise
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abstract
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Howell RR, van Dyke P, Alexander D: Newborn screening: future promise. Pediatr Res 2004, 55(Suppl 2):276A [abstract]. A "sneak preview" of the ACMG/HRSA report to be released in the all of 2004.
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Pediatr Res
, vol.55
, Issue.2 SUPPL.
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Howell, R.R.1
Van Dyke, P.2
Alexander, D.3
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