• Publications
  • Influence
Neonatal screening for inborn errors of metabolism: cost, yield and outcome.
OBJECTIVES. To systematically review the literature on inborn errors of metabolism, neonatal screening technology and screening programmes in order to analyse the costs and benefits of introducingExpand
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European best practice guidelines for cystic fibrosis neonatal screening.
There is wide agreement on the benefits of NBS for CF in terms of lowered disease severity, decreased burden of care, and reduced costs. Risks are mainly associated with disclosure of carrier statusExpand
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A survey of newborn screening for cystic fibrosis in Europe.
BACKGROUND Cystic fibrosis (CF) is a recessively inherited condition caused by mutation of the CFTR gene. Newborn infants with CF have raised levels of immuno-reactive trypsinogen (IRT) in theirExpand
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Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
BACKGROUND & AIMS Trichohepatoenteric syndrome (THES) is an autosomal-recessive disorder characterized by life-threatening diarrhea in infancy, immunodeficiency, liver disease, trichorrhexis nodosa,Expand
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Molecular analysis and prenatal diagnosis of human fumarase deficiency.
Fumarase deficiency is a rare autosomal recessive disorder of the citric acid cycle causing severe neurological impairment. The cDNA for both the rat and human enzymes has been cloned previously andExpand
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The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update
The most common fatty acid oxidation disorder, medium chain acyl-CoA dehydrogenase deficiency (MCADD), has become the focal point for the adoption of tandem mass spectrometry to detect it and relatedExpand
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Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK
BACKGROUND Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a common disorder of fatty acid oxidation in north west Europe. It is very variable in its clinical consequences and is believed toExpand
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Introducing new screens: Why are we all doing different things?
  • R. Pollitt
  • Medicine
  • Journal of Inherited Metabolic Disease
  • 6 July 2007
SummaryThe disease panels covered by newborn blood spot screening vary greatly from country to country. There are different interpretations of the Wilson and Jungner principles and of underlying dataExpand
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Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport.
The effects of varying dietary protein intake, and of supplements of ornithine, arginine, lysine, and proline on a patient with hyperornithinemia, hyperammonemia, and homocitrullinuria wereExpand
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Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria.
We have purified to homogeneity the long-chain specific 3-hydroxyacyl-CoA dehydrogenase from mitochondrial membranes of human infant liver. The enzyme is composed of non-identical subunits of 71 kDaExpand
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