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Items: 38

1.

The Incidence and Clinical Features of Dual Thyroid Ectopia in Congenital Hypothyroidism.

Tucker D, Woods G, Langham S, Biassoni L, Krywawych S, Hindmarsh P, Peters C.

J Clin Endocrinol Metab. 2016 May;101(5):2063-8. doi: 10.1210/jc.2015-3080. Epub 2016 Mar 18.

PMID:
26990941
2.

Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism.

Baruteau J, Hargreaves I, Krywawych S, Chalasani A, Land JM, Davison JE, Kwok MK, Christov G, Karimova A, Ashworth M, Anderson G, Prunty H, Rahman S, Grünewald S.

Mitochondrion. 2014 Jul;17:150-6. doi: 10.1016/j.mito.2014.07.001. Epub 2014 Jul 8.

PMID:
25010387
3.

Screening for congenital hypothyroidism: comparison of borderline screening cut-off points and the effect on the number of children treated with levothyroxine.

Langham S, Hindmarsh P, Krywawych S, Peters C.

Eur Thyroid J. 2013 Sep;2(3):180-6. doi: 10.1159/000350039. Epub 2013 May 8.

4.

Postmortem tandem mass spectrometry profiling for detection of infection in unexpected infant death.

Pryce JW, Weber MA, Heales S, Krywawych S, Ashworth MT, Klein NJ, Sebire NJ.

Forensic Sci Med Pathol. 2012 Sep;8(3):252-8. doi: 10.1007/s12024-011-9308-8. Epub 2012 Jan 14.

PMID:
22246957
5.

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.

Oerton J, Khalid JM, Besley G, Dalton RN, Downing M, Green A, Henderson M, Krywawych S, Leonard J, Andresen BS, Dezateux C.

J Med Screen. 2011;18(4):173-81. doi: 10.1258/jms.2011.011086. Epub 2011 Dec 13.

6.

TPL-2-mediated activation of MAPK downstream of TLR4 signaling is coupled to arginine availability.

Mieulet V, Yan L, Choisy C, Sully K, Procter J, Kouroumalis A, Krywawych S, Pende M, Ley SC, Moinard C, Lamb RF.

Sci Signal. 2010 Aug 17;3(135):ra61. doi: 10.1126/scisignal.2000934.

7.

Relationship of octanoylcarnitine concentrations to age at sampling in unaffected newborns screened for medium-chain acyl-CoA dehydrogenase deficiency.

Khalid JM, Oerton J, Besley G, Dalton N, Downing M, Green A, Henderson M, Krywawych S, Wiley V, Wilcken B, Dezateux C; UK Collaborative Study of Newborn Screening for MCADD.

Clin Chem. 2010 Jun;56(6):1015-21. doi: 10.1373/clinchem.2010.143891. Epub 2010 Apr 22.

8.

Detection of urinary hexanoylglycine in the diagnosis of MCAD deficiency from newborn screening.

Downing M, Manning NJ, Dalton RN, Krywawych S, Oerton J.

J Inherit Metab Dis. 2008 Aug;31(4):550. doi: 10.1007/s10545-008-9976-z. No abstract available.

PMID:
18649007
9.

An adult with type 2 citrullinemia presenting in Europe.

Fiermonte G, Soon D, Chaudhuri A, Paradies E, Lee PJ, Krywawych S, Palmieri F, Lachmann RH.

N Engl J Med. 2008 Mar 27;358(13):1408-9. doi: 10.1056/NEJMc0707353. No abstract available.

PMID:
18367750
10.

A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.

Ridout CK, Keighley P, Krywawych S, Brown RM, Brown GK.

Hum Mutat. 2008 Mar;29(3):451. doi: 10.1002/humu.9525.

PMID:
18273899
11.

Neurological findings in aminoacylase 1 deficiency.

Sass JO, Olbrich H, Mohr V, Hart C, Woldseth B, Krywawych S, Bjurulf B, Lakhani PK, Buchdahl RM, Omran H.

Neurology. 2007 Jun 12;68(24):2151-3. No abstract available.

PMID:
17562838
12.

NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.

Engelke UF, Sass JO, Van Coster RN, Gerlo E, Olbrich H, Krywawych S, Calvin J, Hart C, Omran H, Wevers RA.

NMR Biomed. 2008 Feb;21(2):138-47.

PMID:
17516490
13.

Aortic stenosis in cardiovascular ochronosis.

Ffolkes LV, Brull D, Krywawych S, Hayward M, Hughes SE.

J Clin Pathol. 2007 Jan;60(1):92-3.

14.

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.

Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK, Thorburn DR, Harris RA, Duran M, Desousa C, Krywawych S, Heales SJ, Wanders RJ.

Am J Hum Genet. 2007 Jan;80(1):195-9. Epub 2006 Nov 30.

15.

Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.

Hussain K, Clayton PT, Krywawych S, Chatziandreou I, Mills P, Ginbey DW, Geboers AJ, Berger R, van den Berg IE, Eaton S.

J Pediatr. 2005 May;146(5):706-8.

PMID:
15870679
16.

Elevated levels of asymmetric di-methylarginine in neonates with congenital diaphragmatic hernia.

Pierce CM, Krywawych S, Petros AJ.

Eur J Pediatr. 2005 Apr;164(4):248-9. Epub 2005 Feb 15. No abstract available.

PMID:
15711956
17.
18.

The significance of a high plasma ammonia value.

Chow SL, Gandhi V, Krywawych S, Clayton PT, Leonard JV, Morris AA.

Arch Dis Child. 2004 Jun;89(6):585-6.

19.

Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome.

Hussain K, Bodamer OA, Cameron FJ, Camacho-Hubner C, Soos MA, Jones J, Krywawych S, O'Rahilly S, Aynsley-Green A.

Horm Res. 2004;61(5):222-7. Epub 2004 Feb 2.

PMID:
14764948
20.

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?

Eaton S, Chatziandreou I, Krywawych S, Pen S, Clayton PT, Hussain K.

Biochem Soc Trans. 2003 Dec;31(Pt 6):1137-9. Review.

PMID:
14641012
21.

DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex.

Surendran S, Michals-Matalon K, Krywawych S, Qazi QH, Tuchman R, Rady PL, Tyring SK, Matalon R.

Am J Med Genet. 2002 Dec 15;113(4):371-4.

PMID:
12457410
22.

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.

Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE.

J Clin Invest. 2001 Aug;108(3):457-65.

23.
24.

DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.

Patton MA, Krywawych S, Winter RM, Brenton DP, Baraitser M.

Am J Med Genet. 1987 Jan;26(1):207-15.

PMID:
3812564
25.

[Maternal phenylketonuria].

Brenton DP, Fraser D, Haseler ME, Krywawych S, Lachelin GC, Lilburn M, Stewart A.

Arch Fr Pediatr. 1987;44 Suppl 1:667-70. French. No abstract available.

PMID:
3449011
26.

Hypophosphatasia.

Brenton DP, Krywawych S.

Clin Rheum Dis. 1986 Dec;12(3):771-89. Review. No abstract available.

PMID:
3078782
27.

Alkaptonuria.

Brenton DP, Krywawych S.

Clin Rheum Dis. 1986 Dec;12(3):755-69. Review. No abstract available.

PMID:
3078781
28.

Glycerol-3-phosphate excretion in fructose-1,6-diphosphatase deficiency.

Krywawych S, Katz G, Lawson AM, Wyatt S, Brenton DP.

J Inherit Metab Dis. 1986;9(4):388-92.

PMID:
3031364
29.

Phosphoethanolamine is major constituent of phosphomonester peak detected by 31P NMR in newborn brain.

Brenton DP, Garrod PJ, Krywawych S, Reynolds EO, Bachelard HS, Cox DW, Morris PG.

Lancet. 1985 Jan 12;1(8420):115. No abstract available.

PMID:
2857018
30.

The effect of phytol upon skeletal muscle damage in vitamin E-deficient animals.

Krywawych S, Jackson MJ, Forte C, Garrod PJ, Walker DK, Brenton DP.

J Inherit Metab Dis. 1985;8 Suppl 2:111-2. No abstract available.

PMID:
3930853
31.

3-Methyladipate excretion in animals fed a phytol supplement with reference to Refsum's disease.

Krywawych S, Brenton DP, Jackson MJ, Forte C, Walker DK, Lawson AM.

J Inherit Metab Dis. 1985;8 Suppl 2:147-8. No abstract available.

PMID:
2413274
32.

3-Methyladipate excretion in Refsum's disease.

Brenton DP, Krywawych S.

Lancet. 1982 Mar 13;1(8272):624. No abstract available.

PMID:
6174838
33.

Effect of exercise on protein turnover in man.

Rennie MJ, Edwards RH, Krywawych S, Davies CT, Halliday D, Waterlow JC, Millward DJ.

Clin Sci (Lond). 1981 Nov;61(5):627-39.

PMID:
7285508
34.

The adult presenting idiopathic Fanconi syndrome.

Brenton DP, Isenberg DA, Cusworth DC, Garrod P, Krywawych S, Stamp TC.

J Inherit Metab Dis. 1981;4(4):211-5.

PMID:
6796773
35.

Mechanism of allopurinol action in calcium oxalate stone formers.

Tomlinson B, Al-Khader A, Cohen SL, Kasidas GP, Krywawych S, Edgar L, Rose GA.

Proc Eur Dial Transplant Assoc. 1981;18:556-60. No abstract available.

PMID:
6276882
36.

Protein and amino acid turnover during and after exercise.

Rennie MJ, Edwards RH, Davies CT, Krywawych S, Halliday D, Waterlow JC, Millward DJ.

Biochem Soc Trans. 1980 Oct;8(5):499-501. No abstract available.

PMID:
7450190
37.

Thin-layer chromatography of non-volatile organic acids in clinical chemistry.

Krywawych S.

Clin Chim Acta. 1979 Feb 1;91(3):353-61.

PMID:
761410
38.

Simple and rapid high resolution thin layer electrophoresis of amino acids.

Ersser RS, Krywawych S.

Med Lab Technol. 1974 Jul;31(3):235-44. No abstract available.

PMID:
4467032

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