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Results: 1-13 |
Results: 13
Newborn mass screening versus selective investigation: Benefits and costs
Authors: Pollitt, RJ
Citation: Rj. Pollitt, Newborn mass screening versus selective investigation: Benefits and costs, J INH MET D, 24(2), 2001, pp. 299-302
Features of carnitine palmitoyltransferase type I deficiency
Authors: Olpin, SE Allen, J Bonham, JR Clark, S Clayton, PT Calvin, J Downing, M Ives, K Jones, S Manning, NJ Pollitt, RJ Standing, SJ Tanner, MS
Citation: Se. Olpin et al., Features of carnitine palmitoyltransferase type I deficiency, J INH MET D, 24(1), 2001, pp. 35-42
Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid oftwo affected pregnancies
Authors: Manning, NJ Olpin, SE Pollitt, RJ Downing, M Heeley, AF Young, ID
Citation: Nj. Manning et al., Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid oftwo affected pregnancies, J INH MET D, 23(7), 2000, pp. 757-759
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency
Authors: Chambliss, KL Gray, RGF Rylance, G Pollitt, RJ Gibson, KM
Citation: Kl. Chambliss et al., Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency, J INH MET D, 23(5), 2000, pp. 497-504
The 37th Annual Symposium of the SSIEM - Genova 1999 - Preface
Authors: Cerone, R Caruso, U Besley, GTN Pollitt, RJ Brown, GK Hoffmann, GF Gibson, KM
Citation: R. Cerone et al., The 37th Annual Symposium of the SSIEM - Genova 1999 - Preface, J INH MET D, 23(3), 2000, pp. 195-196
Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure
Authors: Nowaczyk, MJM Whelan, D Hill, RE Clarke, JTC Pollitt, RJ
Citation: Mjm. Nowaczyk et al., Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure, J INH MET D, 23(2), 2000, pp. 188-189
Many Delta F508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation
Authors: Boyne, J Evans, S Pollitt, RJ Taylor, CJ Dalton, A
Citation: J. Boyne et al., Many Delta F508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation, J MED GENET, 37(7), 2000, pp. 543-547
Tandem mass spectrometry screening: proving effectiveness
Authors: Pollitt, RJ
Citation: Rj. Pollitt, Tandem mass spectrometry screening: proving effectiveness, ACT PAEDIAT, 88, 1999, pp. 40-44
Principles and performance: assessing the evidence
Authors: Pollitt, RJ
Citation: Rj. Pollitt, Principles and performance: assessing the evidence, ACT PAEDIAT, 88, 1999, pp. 110-114
The 36th Annual Symposium of the SSIEM-York 1998 - Preface
Authors: Henderson, M Bonham, JR Pollitt, RJ Besley, GTN Brown, GK Hoffmann, GF
Citation: M. Henderson et al., The 36th Annual Symposium of the SSIEM-York 1998 - Preface, J INH MET D, 22(4), 1999, pp. 335-336
Population newborn screening for inherited metabolic disease: Current UK perspectives
Authors: Green, A Pollitt, RJ
Citation: A. Green et Rj. Pollitt, Population newborn screening for inherited metabolic disease: Current UK perspectives, J INH MET D, 22(4), 1999, pp. 572-579
Problems in the detection of fatty acid oxidation defects: Experience of aquality assurance programme for qualitative urinary organic acid analysis
Authors: Downing, M Allen, JC Bonham, JR Edwards, RG Manning, NJ Olpin, SE Pollitt, RJ
Citation: M. Downing et al., Problems in the detection of fatty acid oxidation defects: Experience of aquality assurance programme for qualitative urinary organic acid analysis, J INH MET D, 22(3), 1999, pp. 289-292
Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II
Authors: Manning, NJ Bonham, JR Downing, M Edwards, RG Olpin, SE Pollitt, RJ Pourfarzam, M Sharrard, MJ Tanner, MS
Citation: Nj. Manning et al., Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II, J INH MET D, 22(1), 1999, pp. 88-89
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