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166 results on '"Pollitt RJ"'

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1. Neonatal screening for congenital hypothyroidism: analysis of interlaboratory quality control

4. Atypical Riboflavin-responsive Glutaric Aciduria, and Deficient Peroxisomal Glutaryl-coa Oxidase Activity - a New Peroxisomal Disorder

6. Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms

7. Etude anatomo-biochimique d'un cas néo-natal d'arginino-succinylurie

9. Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples

11. Different Viewpoints: International Perspectives on Newborn Screening.

12. Commentary: What degree of hyperphenylalaninaemia requires treatment?

13. New technologies extend the scope of newborn blood-spot screening, but old problems remain unresolved.

14. Newborn screening-progress and challenges.

15. Newborn screening for congenital hypothyroidism: improved assay performance has created an evidence gap.

16. Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

17. Cost effectiveness of establishing a neonatal screening programme for phenylketonuria in Libya.

18. Newborn blood spot screening: new opportunities, old problems.

19. Qualitative urinary organic acid analysis: methodological approaches and performance.

21. Introducing new screens: why are we all doing different things?

22. Population quantile-quantile plots for monitoring assay performance in newborn screening.

23. International perspectives on newborn screening.

24. The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.

27. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

28. 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.

29. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

30. Newborn mass screening versus selective investigation: benefits and costs.

31. Features of carnitine palmitoyltransferase type I deficiency.

33. Many deltaF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation.

34. Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.

35. Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure.

36. Population newborn screening for inherited metabolic disease: current UK perspectives.

37. Problems in the detection of fatty acid oxidation defects: experience of a quality assurance programme for qualitative urinary organic acid analysis.

39. The use of [9,10-3H]myristate, [9,10-3H]palmitate and [9,10-3H]oleate for the detection and diagnosis of medium and long-chain fatty acid oxidation disorders in intact cultured fibroblasts.

40. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.

41. Molecular analysis and prenatal diagnosis of human fumarase deficiency.

44. Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system.

45. Neonatal screening for inborn errors of metabolism: cost, yield and outcome.

46. Neonatal screening for cystic fibrosis in the Trent region (UK): two-stage immunoreactive trypsin screening compared with a three-stage protocol with DNA analysis as an intermediate step.

47. Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter.

48. Survey of scope of neonatal screening in the United Kingdom.

49. Trichothiodystrophy with sideroblastic anaemia and developmental delay.

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