Search Results - "Pollitt, R"

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta by Balasubramanian, M, Hurst, J, Brown, S, Bishop, N.J, Arundel, P, DeVile, C, Pollitt, R.C, Crooks, L, Longman, D, Caceres, J.F, Shackley, F, Connolly, S, Payne, J.H, Offiah, A.C, Hughes, D, Parker, M.J, Hide, W, Skerry, T

“…Abstract Background Osteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1 in 15,000 live births resulting in frequent…”
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Cumulative life course and adult socioeconomic status and markers of inflammation in adulthood by Pollitt, R A, Kaufman, J S, Rose, K M, Diez-Roux, A V, Zeng, D, Heiss, G

“…Objective:To examine the association between cumulative life course and adult socioeconomic status (SES) and adult levels of inflammatory risk markers…”
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Commentary: What degree of hyperphenylalaninaemia requires treatment? by Pollitt, R. J.

“…Despite some 50 years’ experience in the treatment of phenylketonuria and numerous scientific publications on the subject there is no clear consensus as to…”
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Introducing new screens: Why are we all doing different things? by Pollitt, R. J.

“…Summary The disease panels covered by newborn blood spot screening vary greatly from country to country. There are different interpretations of the Wilson and…”
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International perspectives on newborn screening by Pollitt, R. J.

“…Summary The development of electrospray tandem mass spectrometry (MS‐MS) has greatly increased the number of diseases that can be detected by newborn…”
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Newborn blood spot screening: New opportunities, old problems by Pollitt, R. J

“…Newborn screening is evolving very rapidly. Geographical coverage is expanding, particularly for common disorders such as congenital hypothyroidism. New…”
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European best practice guidelines for cystic fibrosis neonatal screening by Castellani, Carlo, Southern, Kevin W, Brownlee, Keith, Dankert Roelse, Jeannette, Duff, Alistair, Farrell, Michael, Mehta, Anil, Munck, Anne, Pollitt, Rodney, Sermet-Gaudelus, Isabelle, Wilcken, Bridget, Ballmann, Manfred, Corbetta, Carlo, de Monestrol, Isabelle, Farrell, Philip, Feilcke, Maria, Férec, Claude, Gartner, Silvia, Gaskin, Kevin, Hammermann, Jutta, Kashirskaya, Nataliya, Loeber, Gerard, Macek, Milan, Mehta, Gita, Reiman, Andreas, Rizzotti, Paolo, Sammon, Alec, Sands, Dorota, Smyth, Alan, Sommerburg, Olaf, Torresani, Toni, Travert, Georges, Vernooij, Annette, Elborn, Stuart

“…Abstract 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…”
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Fever and Rash One Month After Orthotopic Liver Transplantation by Hobeika, M., Pollitt, R., Freise, C., Shinkai, K.

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Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK by Pollitt, R J, Leonard, J V

“…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…”
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A combined vascular surgical and clinical genetics approach to diffuse aneurysmal disease by Jones, K A, Choong, A M T L, Canham, N, Renton, S, Pollitt, R, Nesbitt, M, Kopcke, D, Islam, L, Buckley, J, Ghali, N, Vandersteen, A

“…We report two patients who presented with extensive aneurysmal disease, in association with minimal external physical signs. Patient 1 remained genetically…”
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Palmoplantar contractures in childhood: a rare complication of vascular Ehlers-Danlos syndrome by Foulkes, A. C., Pollitt, R., Sobey, G., Pope, F. M., Taylor, A. E. M.

“…Summary Although catastrophic vascular complications in vascular Ehlers–Danlos Syndrome (EDS) are well recognized, other complications such as flexion…”
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Femoral Artery Dissection in Vascular Type Ehlers–Danlos Syndrome; Leave Well Alone? by Singh, M, Puppala, S, Pollitt, R.C, Sobey, G.J, Scott, D.J.A

“…Abstract Vascular Ehlers–Danlos Syndrome (EDS) is a rare autosomal dominant condition resulting from a defect in type III procollagen synthesis. This causes…”
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Qualitative urinary organic acid analysis: Methodological approaches and performance by Peters, V, Garbade, S. F, Langhans, C. D, Hoffmann, G. F, Pollitt, R. J, Downing, M, Bonham, J. R

“…A programme for proficiency testing of biochemical genetics laboratories undertaking urinary qualitative organic acid analysis and its results for 50 samples…”
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Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency by Olpin, S. E., Afifi, A., Clark, S., Manning, N. J., Bonham, J. R., Dalton, A., Leonard, J. V., Land, J. M., Andresen, B. S., Morris, A. A., Muntoni, F., Turnbull, D., Pourfarzam, M., Rahman, S., Pollitt, R. J.

“…Carnitine palmitoyltransferase type II (CPT II) deficiency has three basic phenotypes, late‐onset muscular (mild), infantile/juvenile hepatic (intermediate)…”
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2‐Methyl‐3‐hydroxybutyryl‐CoA dehydrogenase deficiency in a 23‐year‐old man by Olpin, S. E., Pollitt, R. J., McMenamin, J., Manning, N. J., Besley, G., Ruiter, J. P. N., Wanders, R. J. A.

“…2‐Methyl‐3‐hydroxybutyryl‐CoA dehydrogenase (EC 1.1.1.178) deficiency is a recently described defect of isoleucine catabolism. The disorder is characterized by…”
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Population quantile‐quantile plots for monitoring assay performance in newborn screening by Pollitt, R. J., Matthews, A. J.

“…Summary Immunoreactive trypsinogen (IRT) used in screening for cystic fibrosis is heterogeneous, poorly characterized, and displays marked matrix effects when…”
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Disorders of mitochondrial long‐chain fatty acid oxidation by Pollitt, R. J.

“…Summary The oxidation of long‐chain fatty acids requires a series of enzymes which are located in or on the mitochondrial membranes. These include carnitine…”
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Children with recurrent fractures and low bone mass or idiopathic juvenile osteoporosis may have abnormalities in the canonical Wnt-signalling pathway through LRP5 by Patel, A, Pollitt, R, Dalton, A, Saarinen, A, Bishop, N.J

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Focus on neonatal screening by Hoffmann, G., Pollitt, R., Torresani, T., Yamaguchi, S.

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Neonatal screening for inborn errors of metabolism: cost, yield and outcome by Pollitt, R J, Green, A, McCabe, C J, Booth, A, Cooper, N J, Leonard, J V, Nicholl, J, Nicholson, P, Tunaley, J R, Virdi, N K

“…OBJECTIVES. To systematically review the literature on inborn errors of metabolism, neonatal screening technology and screening programmes in order to analyse…”
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