Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 56

1.

Bile acid aspiration in people with cystic fibrosis before and after lung transplantation.

Brodlie M, Aseeri A, Lordan JL, Robertson AG, McKean MC, Corris PA, Griffin SM, Manning NJ, Pearson JP, Ward C.

Eur Respir J. 2015 Dec;46(6):1820-3. doi: 10.1183/13993003.00891-2015. Epub 2015 Oct 22. No abstract available.

2.

New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.

Calpena E, Deshpande AA, Yap S, Kumar A, Manning NJ, Bachhawat AK, Espinós C.

Eur J Pediatr. 2015 Mar;174(3):407-11. doi: 10.1007/s00431-014-2397-0. Epub 2014 Aug 17.

PMID:
25129617
3.

Riboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapy.

Manning NJ, Allen EK, Kirk RJ, Sharrard MJ, Smith EJ.

JIMD Rep. 2012;5:71-5. doi: 10.1007/8904_2011_99. Epub 2011 Nov 20.

4.

A vitamin B-12 supplement of 500 μg/d for eight weeks does not normalize urinary methylmalonic acid or other biomarkers of vitamin B-12 status in elderly people with moderately poor vitamin B-12 status.

Hill MH, Flatley JE, Barker ME, Garner CM, Manning NJ, Olpin SE, Moat SJ, Russell J, Powers HJ.

J Nutr. 2013 Feb;143(2):142-7. doi: 10.3945/jn.112.169193. Epub 2012 Dec 12.

PMID:
23236022
5.

Determinants of urinary methylmalonic acid concentration in an elderly population in the United Kingdom.

Flatley JE, Garner CM, Al-Turki M, Manning NJ, Olpin SE, Barker ME, Powers HJ.

Am J Clin Nutr. 2012 Mar;95(3):686-93. doi: 10.3945/ajcn.111.024133. Epub 2012 Feb 1.

PMID:
22301932
6.

Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.

van der Watt G, Owen EP, Berman P, Meldau S, Watermeyer N, Olpin SE, Manning NJ, Baumgarten I, Leisegang F, Henderson H.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):178-82. doi: 10.1016/j.ymgme.2010.07.018. Epub 2010 Aug 3.

PMID:
20732827
7.

Differential azole antifungal efficacies contrasted using a Saccharomyces cerevisiae strain humanized for sterol 14 alpha-demethylase at the homologous locus.

Parker JE, Merkamm M, Manning NJ, Pompon D, Kelly SL, Kelly DE.

Antimicrob Agents Chemother. 2008 Oct;52(10):3597-603. doi: 10.1128/AAC.00517-08. Epub 2008 Aug 11.

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.

Lanosterol biosynthesis in the prokaryote Methylococcus capsulatus: insight into the evolution of sterol biosynthesis.

Lamb DC, Jackson CJ, Warrilow AG, Manning NJ, Kelly DE, Kelly SL.

Mol Biol Evol. 2007 Aug;24(8):1714-21. Epub 2007 Jun 13.

PMID:
17567593
10.

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.

Olpin SE, Clark S, Andresen BS, Bischoff C, Olsen RK, Gregersen N, Chakrapani A, Downing M, Manning NJ, Sharrard M, Bonham JR, Muntoni F, Turnbull DN, Pourfarzam M.

J Inherit Metab Dis. 2005;28(4):533-44.

PMID:
15902556
11.

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

Olpin SE, Afifi A, Clark S, Manning NJ, Bonham JR, Dalton A, Leonard JV, Land JM, Andresen BS, Morris AA, Muntoni F, Turnbull D, Pourfarzam M, Rahman S, Pollitt RJ.

J Inherit Metab Dis. 2003;26(6):543-57.

PMID:
14605500
12.

Mutations in Saccharomyces cerevisiae sterol C5-desaturase conferring resistance to the CYP51 inhibitor fluconazole.

Jackson CJ, Lamb DC, Manning NJ, Kelly DE, Kelly SL.

Biochem Biophys Res Commun. 2003 Oct 3;309(4):999-1004.

PMID:
13679073
13.

Fish odour syndrome with features of both primary and secondary trimethylaminuria.

Fraser-Andrews EA, Manning NJ, Ashton GH, Eldridge P, McGrath J, Menagé Hdu P.

Clin Exp Dermatol. 2003 Mar;28(2):203-5.

PMID:
12653714
14.

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

Olpin SE, Pollitt RJ, McMenamin J, Manning NJ, Besley G, Ruiter JP, Wanders RJ.

J Inherit Metab Dis. 2002 Oct;25(6):477-82.

PMID:
12555940
15.

A novel sterol 14alpha-demethylase/ferredoxin fusion protein (MCCYP51FX) from Methylococcus capsulatus represents a new class of the cytochrome P450 superfamily.

Jackson CJ, Lamb DC, Marczylo TH, Warrilow AG, Manning NJ, Lowe DJ, Kelly DE, Kelly SL.

J Biol Chem. 2002 Dec 6;277(49):46959-65. Epub 2002 Sep 13.

16.

Refsum's disease.

Wills AJ, Manning NJ, Reilly MM.

QJM. 2001 Aug;94(8):403-6. Review. No abstract available. Erratum in: QJM 2001 Dec;94(12):722.

PMID:
11493716
17.

Plant sterol 14 alpha-demethylase affinity for azole fungicides.

Lamb DC, Cannieux M, Warrilow AG, Bak S, Kahn RA, Manning NJ, Kelly DE, Kelly SL.

Biochem Biophys Res Commun. 2001 Jun 15;284(3):845-9.

PMID:
11396979
18.

Features of carnitine palmitoyltransferase type I deficiency.

Olpin SE, Allen J, Bonham JR, Clark S, Clayton PT, Calvin J, Downing M, Ives K, Jones S, Manning NJ, Pollitt RJ, Standing SJ, Tanner MS.

J Inherit Metab Dis. 2001 Feb;24(1):35-42.

PMID:
11286380
19.

Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies.

Manning NJ, Olpin SE, Pollitt RJ, Downing M, Heeley AF, Young ID.

J Inherit Metab Dis. 2000 Nov;23(7):757-9. No abstract available.

PMID:
11117439
20.

Glutaraldehyde-induced cross-links: a study of model compounds and commercial bioprosthetic valves.

Southern LJ, Hughes H, Lawford PV, Clench MR, Manning NJ.

J Heart Valve Dis. 2000 Mar;9(2):241-8; discussion 248-9.

PMID:
10772042
21.

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.

Olpin SE, Manning NJ, Pollitt RJ, Bonham JR, Downing M, Clark S.

Adv Exp Med Biol. 1999;466:321-5. No abstract available.

PMID:
10709659
23.

Generation of a complete, soluble, and catalytically active sterol 14 alpha-demethylase-reductase complex.

Lamb DC, Kelly DE, Venkateswarlu K, Manning NJ, Bligh HF, Schunck WH, Kelly SL.

Biochemistry. 1999 Jul 6;38(27):8733-8.

PMID:
10393548
24.

Purification, reconstitution, and inhibition of cytochrome P-450 sterol delta22-desaturase from the pathogenic fungus Candida glabrata.

Lamb DC, Maspahy S, Kelly DE, Manning NJ, Geber A, Bennett JE, Kelly SL.

Antimicrob Agents Chemother. 1999 Jul;43(7):1725-8.

25.

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

Downing M, Allen JC, Bonham JR, Edwards RG, Manning NJ, Olpin SE, Pollitt RJ.

J Inherit Metab Dis. 1999 May;22(3):289-92. No abstract available.

PMID:
10384389
26.

Prenatal diagnosis of Canavan disease--problems and dilemmas.

Besley GT, Elpeleg ON, Shaag A, Manning NJ, Jakobs C, Walter JH.

J Inherit Metab Dis. 1999 May;22(3):263-6. No abstract available.

PMID:
10384383
27.

Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II.

Manning NJ, Bonham JR, Downing M, Edwards RG, Olpin SE, Pollitt RJ, Pourfarzam M, Sharrard MJ, Tanner MS.

J Inherit Metab Dis. 1999 Feb;22(1):88-9. No abstract available.

PMID:
10070625
28.

Expression, purification, reconstitution and inhibition of Ustilago maydis sterol 14 alpha-demethylase (CYP51; P450(14DM)).

Lamb DC, Kelly DE, Manning NJ, Hollomon DW, Kelly SL.

FEMS Microbiol Lett. 1998 Dec 15;169(2):369-73.

29.

A sterol biosynthetic pathway in Mycobacterium.

Lamb DC, Kelly DE, Manning NJ, Kelly SL.

FEBS Lett. 1998 Oct 16;437(1-2):142-4.

30.

NADPH cytochrome P-450 oxidoreductase and susceptibility to ketoconazole.

Venkateswarlu K, Kelly DE, Manning NJ, Kelly SL.

Antimicrob Agents Chemother. 1998 Jul;42(7):1756-61.

32.

Carnitine-acylcarnitine translocase deficiency--a mild phenotype.

Olpin SE, Bonham JR, Downing M, Manning NJ, Pollitt RJ, Sharrard MJ, Tanner MS.

J Inherit Metab Dis. 1997 Sep;20(5):714-5. No abstract available.

PMID:
9323572
33.

Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid.

Olpin SE, Manning NJ, Pollitt RJ, Clarke S.

J Inherit Metab Dis. 1997 Jul;20(3):415-9. No abstract available.

PMID:
9266370
34.

Itraconazole resistance in Aspergillus fumigatus.

Denning DW, Venkateswarlu K, Oakley KL, Anderson MJ, Manning NJ, Stevens DA, Warnock DW, Kelly SL.

Antimicrob Agents Chemother. 1997 Jun;41(6):1364-8.

35.

Fluconazole tolerance in clinical isolates of Cryptococcus neoformans.

Venkateswarlu K, Taylor M, Manning NJ, Rinaldi MG, Kelly SL.

Antimicrob Agents Chemother. 1997 Apr;41(4):748-51.

36.

Reduced intracellular accumulation of azole antifungal results in resistance in Candida albicans isolate NCPF 3363.

Lamb DC, Kelly DE, Manning NJ, Kelly SL.

FEMS Microbiol Lett. 1997 Feb 15;147(2):189-93.

37.

Resistance to fluconazole and cross-resistance to amphotericin B in Candida albicans from AIDS patients caused by defective sterol delta5,6-desaturation.

Kelly SL, Lamb DC, Kelly DE, Manning NJ, Loeffler J, Hebart H, Schumacher U, Einsele H.

FEBS Lett. 1997 Jan 2;400(1):80-2.

38.

Reduced accumulation of drug in Candida krusei accounts for itraconazole resistance.

Venkateswarlu K, Denning DW, Manning NJ, Kelly SL.

Antimicrob Agents Chemother. 1996 Nov;40(11):2443-6.

39.
40.

Resistance to fluconazole in Candida albicans from AIDS patients correlated with reduced intracellular accumulation of drug.

Venkateswarlu K, Denning DW, Manning NJ, Kelly SL.

FEMS Microbiol Lett. 1995 Sep 15;131(3):337-41.

PMID:
7557345
41.

Defective sterol delta 5(6) desaturase as a cause of azole resistance in Ustilago maydis.

Joseph-Horne T, Manning NJ, Hollomon D, Kelly SL.

FEMS Microbiol Lett. 1995 Mar 15;127(1-2):29-34.

PMID:
7737481
42.

Prenatal diagnosis of glutathione synthase deficiency.

Manning NJ, Davies NP, Olpin SE, Carpenter KH, Smith MF, Pollitt RJ, Duncan SL, Larsson A, Carlsson B.

Prenat Diagn. 1994 Jun;14(6):475-8.

PMID:
7937585
43.

Quality assessment of urinary organic acid analysis.

Bonham JR, Downing M, Pollitt RJ, Manning NJ, Carpenter KH, Olpin SE, Allen JC, Worthy E.

Ann Clin Biochem. 1994 Mar;31 ( Pt 2):129-33.

PMID:
8060090
44.

6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia.

Cromby CH, Manning NJ, Pollitt RJ, Powell S, Bennett MJ.

J Inherit Metab Dis. 1994;17(1):81-4.

PMID:
7914250
45.

Prenatal diagnosis of a defect in medium-chain fatty acid oxidation.

Pollitt RJ, Manning NJ, Olpin SE, Young ID.

J Inherit Metab Dis. 1994;17(3):279-82. No abstract available.

PMID:
7807933
46.
47.

Vitreous humour organic acids in medium chain acyl-CoA dehydrogenase deficiency.

Mills GA, Walker V, Ashton MR, Manning NJ, Pollitt RJ.

J Inherit Metab Dis. 1990;13(2):239-40. No abstract available.

PMID:
2116561
48.
49.

Generalised dicarboxylic aciduria: a common finding in neonates.

Downing M, Rose P, Bennett MJ, Manning NJ, Pollitt RJ.

J Inherit Metab Dis. 1989;12 Suppl 2:321-4. No abstract available.

PMID:
2512434
50.

Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in family with sudden infant death.

Bennett MJ, Allison F, Pollitt RJ, Manning NJ, Gray RG, Green A, Hale DE, Coates PM.

Lancet. 1987 Feb 21;1(8530):440-1. No abstract available.

PMID:
2880228

Supplemental Content

Loading ...
Support Center