Search Results - "Krywawych, S"

Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism by Baruteau, J, Hargreaves, I, Krywawych, S, Chalasani, A, Land, J M, Davison, J E, Kwok, M K, Christov, G, Karimova, A, Ashworth, M, Anderson, G, Prunty, H, Rahman, S, Grünewald, S

“…Dilated cardiomyopathy is a rare complication in propionic acidaemia (PA). Underlying pathophysiological mechanisms are poorly understood. We present a child…”
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Neurological findings in aminoacylase 1 deficiency by SASS, J. O, OLBRICH, H, MOHR, V, HART, C, WOLDSETH, B, KRYWAWYCH, S, BJURULF, B, LAKHANI, P. K, BUCHDAHL, R. M, OMRAN, H

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putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons by Ridout, C.K, Keighley, P, Krywawych, S, Brown, R.M, Brown, G.K

“…A nonsense mutation (c.729C>A, Y243X) in exon 7 of the PDHA1 gene in a patient with pyruvate dehydrogenase deficiency results in aberrant splicing of the…”
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Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle? by Eaton, S, Chatziandreou, I, Krywawych, S, Pen, S, Clayton, P T, Hussain, K

“…Hyperinsulinism of infancy is caused by inappropriate insulin secretion in pancreatic beta-cells, even when blood glucose is low. Several molecular defects are…”
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Aortic stenosis in cardiovascular ochronosis by Ffolkes, L V, Brull, D, Krywawych, S, Hayward, M, Hughes, S E

“…Alkaptonuria (endogenous ochronosis) is a rare metabolic disorder caused by a deficiency of homogentisic acid oxidase, an enzyme responsible for the metabolic…”
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Detection of urinary hexanoylglycine in the diagnosis of MCAD deficiency from newborn screening by Downing, M., Manning, N. J., Dalton, R. N., Krywawych, S., Oerton, J.

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The significance of a high plasma ammonia value by Chow, S L, Gandhi, V, Krywawych, S, Clayton, P T, Leonard, J V, Morris, A A M

“…At a tertiary referral centre, just over 50% of patients with plasma ammonia values over 200 μmol/l had inborn errors of metabolism. To distinguish artefactual…”
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G476(P) Aminoacylase 1 deficiency, a clinical prospect by KamarusJaman, N, Davison, J, Gissen, P, Krywawych, S

“…BackgroundAminoacylase-1 deficiency(OMIM 609924) is a rare form of inborn error of metabolism ( IEM) (Van Coster et al.2005 Sass et al. 2006) inherited by…”
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Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome by Hussain, K, Bodamer, O A F, Cameron, F J, Camacho-Hubner, C, Soos, M A, Jones, J, Krywawych, S, O'Rahilly, S, Aynsley-Green, A

“…Recurrent and persistent hypoketotic, hypofattyacidaemic hypoglycaemia in infancy and childhood is most frequently due to hyperinsulinism of infancy. This…”
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Elevated propionate signalling drives Pde9a overexpression and contractile dysfunction through increased histone acetylation and propionylation by Park, KC, Crump, NT, Hulikova, A, Ford, KL, Louwman, N, Carnicer, R, Hauton, D, Koschinski, A, Mccullagh, J, Zaccolo, M, Krywawych, S, Milne, TA, Swietach, P

“…Abstract Funding Acknowledgements Type of funding sources: Private grant(s) and/or Sponsorship. Main funding source(s): British Heart Foundation and Propionic…”
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Effect of exercise on protein turnover in man by Rennie, M J, Edwards, R H, Krywawych, S, Davies, C T, Halliday, D, Waterlow, J C, Millward, D J

“…1. We have investigated the effects of moderate long-term exercise on protein turnover in fed man by measuring the extent of whole-body nitrogen production,…”
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Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion by Clayton, P T, Eaton, S, Aynsley-Green, A, Edginton, M, Hussain, K, Krywawych, S, Datta, V, Malingre, H E, Berger, R, van den Berg, I E

“…A female infant of nonconsanguineous Indian parents presented at 4 months with a hypoglycemic convulsion. Further episodes of hypoketotic hypoglycemia were…”
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Thin-layer chromatography of non-volatile organic acids in clinical chemistry by Krywawych, S

“…The separation of biologically occurring non-volatile organic acids has been examined by thin-layer chromatography using a variety of solvent systems and…”
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A putative exonic splicing enhancer in exon 7 of thePDHA1 gene affects splicing of adjacent exons by Ridout, C.K., Keighley, P., Krywawych, S., Brown, R.M., Brown, G.K.

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Homozygous thermolabile variant of the methylenetetrahydrofolate reductase gene: a potential risk factor for hyperhomocysteinaemia, CVD, and stroke in childhood by Prengler, M, Sturt, N, Krywawych, S, Surtees, R, Liesner, R, Kirkham, F

“…In this study of 118 children (median age 5.1 years; range 6 months to 17 years) with ischaemic stroke or transient ischaemic attack (TIA), 22 children (19%)…”
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Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene by Hussain, Khalid, Clayton, Peter T., Krywawych, Steve, Chatziandreou, Ilenia, Mills, Phillipa, Ginbey, D.W., Geboers, Ans J.J.M., Berger, Ruud, van den Berg, Inge E.T., Eaton, Simon

“…Fatty acids play an important role in regulating insulin secretion, but the mechanisms are unclear. We report a case of a novel splice site mutation in the…”
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Relationship of Octanoylcarnitine Concentrations to Age at Sampling in Unaffected Newborns Screened for Medium-Chain Acyl-CoA Dehydrogenase Deficiency by KHALID, Javaria M, OERTON, Juliet, DEZATEUX, Carol, BESLEY, Guy, DALTON, Neil, DOWNING, Melanie, GREEN, Anne, HENDERSON, Mick, KRYWAWYCH, Steve, WILEY, Veronica, WILCKEN, Bridget

“…Although octanoylcarnitine (C8) concentrations measured from newborn screening dried blood spots are used to identify those at high risk of medium-chain…”
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Glycerol‐3‐phosphate excretion in fructose‐1,6‐diphosphatase deficiency by Krywawych, S., Katz, G., Lawson, A. M., Wyatt, S., Brenton, D. P.

“…A patient aged 23 months with fructose‐1,6‐diphosphatase deficiency is reported. This infant demonstrated an increased urine excretion of glycerol‐3‐phosphate…”
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Absence of hepatic molybdenum cofactor: An inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase by Wadman, S. K., Duran, M., Beemer, F. A., Cats, B. P., Johnson, J. L., Rajagopalan, K. V., Saudubray, J. M., Ogier, H., Charpentier, C., Berger, R., Smit, G. P. A., Wilson, J., Krywawych, S.

“…Five patients with a combined deficiency of xanthine dehydrogenase, sulphite oxidase and, probably, also of aldehyde oxidase are described. This remarkable…”
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URINARY ASYMMETRIC DI-METHYL ARGININE LEVELS IN TERM INFANTS WITH CONGENITAL DIAPHRAGMATIC HERNIA by Pierce, CM, Krywawych, S, Petros, AJ

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