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Items: 1 to 50 of 278

1.

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R.

J Inherit Metab Dis. 2020 Mar;43(2):297-308. doi: 10.1002/jimd.12156. Epub 2019 Aug 13.

2.

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.

Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Pérez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodríguez-Pombo P, Olpin SE, Banka S.

J Inherit Metab Dis. 2019 Sep;42(5):809-817. doi: 10.1002/jimd.12135. Epub 2019 Aug 1.

PMID:
31177572
3.

Developing Successful Breeding Programs for New Zealand Aquaculture: A Perspective on Progress and Future Genomic Opportunities.

Symonds JE, Clarke SM, King N, Walker SP, Blanchard B, Sutherland D, Roberts R, Preece MA, Tate M, Buxton P, Dodds KG.

Front Genet. 2019 Feb 1;10:27. doi: 10.3389/fgene.2019.00027. eCollection 2019.

4.

Temperature sensitive regions of the Chinook salmon vertebral column: Vestiges and meristic variation.

De Clercq A, Perrott MR, Davie PS, Preece MA, Owen MAG, Huysseune A, Witten PE.

J Morphol. 2018 Sep;279(9):1301-1311. doi: 10.1002/jmor.20871. Epub 2018 Sep 6.

PMID:
30187932
5.

In vivo growth and genomic characterization of rickettsia-like organisms isolated from farmed Chinook salmon (Oncorhynchus tshawytscha) in New Zealand.

Gias E, Brosnahan CL, Orr D, Binney B, Ha HJ, Preece MA, Jones B.

J Fish Dis. 2018 May 28. doi: 10.1111/jfd.12817. [Epub ahead of print]

PMID:
29806079
6.

Prevalence of spinal abnormalities in Chinook salmon smolt and influence of early rearing temperature and growth rates.

Munday JS, Perrott MR, Symonds JE, Walker SP, Preece MA, Davie PS.

J Fish Dis. 2018 Jul;41(7):1111-1116. doi: 10.1111/jfd.12804. Epub 2018 Mar 30.

PMID:
29600512
7.

The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study.

MacDonald A, Webster R, Whitlock M, Gerrard A, Daly A, Preece MA, Evans S, Ashmore C, Chakrapani A, Vijay S, Santra S.

J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):297-304. doi: 10.1515/jpem-2017-0426.

PMID:
29425111
8.

A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.

Ferdinandusse S, Denis S, van Roermund CWT, Preece MA, Koster J, Ebberink MS, Waterham HR, Wanders RJA.

Biochim Biophys Acta Mol Basis Dis. 2018 Mar;1864(3):952-958. doi: 10.1016/j.bbadis.2017.12.032. Epub 2017 Dec 26.

9.

The external phenotype-skeleton link in post-hatch farmed Chinook salmon (Oncorhynchus tshawytscha).

De Clercq A, Perrott MR, Davie PS, Preece MA, Huysseune A, Witten PE.

J Fish Dis. 2018 Mar;41(3):511-527. doi: 10.1111/jfd.12753. Epub 2017 Nov 21.

PMID:
29159824
10.

Vertebral column regionalisation in Chinook salmon, Oncorhynchus tshawytscha.

De Clercq A, Perrott MR, Davie PS, Preece MA, Wybourne B, Ruff N, Huysseune A, Witten PE.

J Anat. 2017 Oct;231(4):500-514. doi: 10.1111/joa.12655. Epub 2017 Jul 31.

11.

Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia.

Santra S, Macdonald A, Preece MA, Olsen RK, Andresen BS.

Mol Genet Metab Rep. 2016 Dec 22;10:28-30. doi: 10.1016/j.ymgmr.2016.11.005. eCollection 2017 Mar.

12.

Unilateral perivertebral fibrosis associated with lordosis, kyphosis and scoliosis (LKS) in farmed Chinook salmon in New Zealand.

Munday JS, Perrott MR, Symonds JE, Walker SP, Lovett B, Preece MA, Davie PS.

Dis Aquat Organ. 2016 Oct 27;121(3):211-221.

PMID:
27786159
13.

How to use a controlled fast to investigate hypoglycaemia.

Sreekantam S, Preece MA, Vijay S, Raiman J, Santra S.

Arch Dis Child Educ Pract Ed. 2017 Feb;102(1):28-36. doi: 10.1136/archdischild-2015-308702. Epub 2016 Aug 24. Review.

PMID:
27557839
14.

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.

Santra S, Cameron JM, Shyr C, Zhang L, Drögemöller B, Ross CJ, Wasserman WW, Wevers RA, Rodenburg RJ, Gupte G, Preece MA, van Karnebeek CD.

Mol Genet Metab. 2016 May;118(1):21-7. doi: 10.1016/j.ymgme.2016.03.001. Epub 2016 Mar 4.

PMID:
26971250
15.

A Diagnostic Algorithm for Children with Low Alkaline Phosphatase Activities: Lessons Learned from Laboratory Screening for Hypophosphatasia.

Saraff V, Narayanan VK, Lawson AJ, Shaw NJ, Preece MA, Högler W.

J Pediatr. 2016 May;172:181-186.e1. doi: 10.1016/j.jpeds.2016.01.045. Epub 2016 Feb 16.

PMID:
26896157
16.

Outcome of children with hereditary tyrosinaemia following newborn screening.

McKiernan PJ, Preece MA, Chakrapani A.

Arch Dis Child. 2015 Aug;100(8):738-41. doi: 10.1136/archdischild-2014-306886. Epub 2015 Jan 6.

PMID:
25564536
17.

The relationship between Insulin-like Growth Factor 1, sex steroids and timing of the pubertal growth spurt.

Cole TJ, Ahmed ML, Preece MA, Hindmarsh P, Dunger DB.

Clin Endocrinol (Oxf). 2015 Jun;82(6):862-9. doi: 10.1111/cen.12682. Epub 2015 Jan 8.

18.

The micronutrient status of patients with phenylketonuria on dietary treatment: an ongoing challenge.

Evans S, Daly A, MacDonald J, Preece MA, Santra S, Vijay S, Chakrapani A, MacDonald A.

Ann Nutr Metab. 2014;65(1):42-8. doi: 10.1159/000363391. Epub 2014 Sep 4.

PMID:
25196394
19.

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S.

Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13.

20.

Dietary practices in glutaric aciduria type 1 over 16 years.

Gokmen-Ozel H, MacDonald A, Daly A, Ashmore C, Preece MA, Hendriksz C, Vijay S, Chakrapani A.

J Hum Nutr Diet. 2012 Dec;25(6):514-9. doi: 10.1111/j.1365-277X.2012.01269.x. Epub 2012 Jul 30.

PMID:
22845646
21.

Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1.

Bartlett DC, Preece MA, Holme E, Lloyd C, Newsome PN, McKiernan PJ.

J Inherit Metab Dis. 2013 Jan;36(1):15-20. doi: 10.1007/s10545-012-9482-1. Epub 2012 Mar 29.

PMID:
22456946
22.

Diurnal variation of phenylalanine concentrations in tyrosinaemia type 1: should we be concerned?

Daly A, Gokmen-Ozel H, MacDonald A, Preece MA, Davies P, Chakrapani A, McKiernan P.

J Hum Nutr Diet. 2012 Apr;25(2):111-6. doi: 10.1111/j.1365-277X.2011.01215.x. Epub 2011 Dec 15.

PMID:
22168396
23.

Renal transplantation in a boy with methylmalonic acidaemia.

Clothier JC, Chakrapani A, Preece MA, McKiernan P, Gupta R, Macdonald A, Hulton SA.

J Inherit Metab Dis. 2011 Jun;34(3):695-700. doi: 10.1007/s10545-011-9303-y. Epub 2011 Mar 17.

PMID:
21416195
24.

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK.

Hutchin T, Preece MA, Hendriksz C, Chakrapani A, McClelland V, Okumura F, Song YZ, Iijima M, Kobayashi K, Saheki T, McKiernan P, Baumann U.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S151-5. doi: 10.1007/s10545-009-1116-x. Epub 2009 Jun 11.

PMID:
19517266
25.

Evidence that increased 5-HT release evokes region-specific effects on blood-oxygenation level-dependent functional magnetic resonance imaging responses in the rat brain.

Preece MA, Taylor MJ, Raley J, Blamire A, Sharp T, Sibson NR.

Neuroscience. 2009 Mar 17;159(2):751-9. doi: 10.1016/j.neuroscience.2008.12.032. Epub 2009 Jan 1.

PMID:
19174180
26.

Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy.

Pierre G, Setchell K, Blyth J, Preece MA, Chakrapani A, McKiernan P.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S241-5. doi: 10.1007/s10545-008-0815-z. Epub 2008 Dec 27.

PMID:
19125350
27.

Long-term compliance with a novel vitamin and mineral supplement in older people with PKU.

MacDonald A, Lee P, Davies P, Daly A, Lilburn M, Gokmen Ozel H, Preece MA, Hendriksz C, Chakrapani A.

J Inherit Metab Dis. 2008 Dec;31(6):718-23. doi: 10.1007/s10545-008-0960-4. Epub 2008 Oct 22.

PMID:
18941921
28.

Can plasma ammonia be measured in patients with acute liver disease?

Herrera DJ, Moore S, Heap S, Preece MA, Griffiths P.

Ann Clin Biochem. 2008 Jul;45(Pt 4):426-8. doi: 10.1258/acb.2008.007175.

PMID:
18583631
29.

A randomised study of the effect of two doses of biosynthetic human growth hormone on final height of children with familial short stature.

Elder CJ, Barton JS, Brook CG, Preece MA, Dattani MT, Hindmarsh PC.

Horm Res. 2008;70(2):89-92. doi: 10.1159/000139150. Epub 2008 Jun 12.

PMID:
18547955
30.

A randomised study of two doses of biosynthetic human growth hormone on final height of pubertal children with growth hormone deficiency.

Coelho R, Brook CG, Preece MA, Stanhope RG, Dattani MT, Hindmarsh PC.

Horm Res. 2008;70(2):85-8. doi: 10.1159/000139149. Epub 2008 Jun 12.

PMID:
18547954
31.

Renal tubular function in children with tyrosinaemia type I treated with nitisinone.

Santra S, Preece MA, Hulton SA, McKiernan PJ.

J Inherit Metab Dis. 2008 Jun;31(3):399-402. doi: 10.1007/s10545-008-0817-x. Epub 2008 May 23.

PMID:
18509744
32.

Region-specific effects of a tyrosine-free amino acid mixture on amphetamine-induced changes in BOLD fMRI signal in the rat brain.

Preece MA, Sibson NR, Raley JM, Blamire A, Styles P, Sharp T.

Synapse. 2007 Nov;61(11):925-32.

PMID:
17701967
33.

Prospective treatment in carnitine-acylcarnitine translocase deficiency.

Pierre G, Macdonald A, Gray G, Hendriksz C, Preece MA, Chakrapani A.

J Inherit Metab Dis. 2007 Oct;30(5):815. Epub 2007 May 12.

PMID:
17508264
34.

New height, weight and head circumference charts for British children with Williams syndrome.

Martin ND, Smith WR, Cole TJ, Preece MA.

Arch Dis Child. 2007 Jul;92(7):598-601. Epub 2007 Feb 14.

35.

The usefulness of bone marrow aspiration in the diagnosis of Niemann-Pick disease type C in infantile liver disease.

Rodrigues AF, Gray RG, Preece MA, Brown R, Hill FG, Baumann U, McKiernan PJ.

Arch Dis Child. 2006 Oct;91(10):841-4. Epub 2006 May 31.

36.

The incidence of inherited metabolic disorders in the West Midlands, UK.

Sanderson S, Green A, Preece MA, Burton H.

Arch Dis Child. 2006 Nov;91(11):896-9. Epub 2006 May 11.

37.

Pharmacokinetic studies of recombinant human insulin-like growth factor I (rhIGF-I)/rhIGF-binding protein-3 complex administered to patients with growth hormone insensitivity syndrome.

Camacho-Hübner C, Rose S, Preece MA, Sleevi M, Storr HL, Miraki-Moud F, Minuto F, Frystyk J, Rogol A, Allan G, Sommer A, Savage MO.

J Clin Endocrinol Metab. 2006 Apr;91(4):1246-53. Epub 2006 Jan 10.

PMID:
16403822
38.

Successful pregnancy in a treated patient with biotinidase deficiency.

Hendriksz CJ, Preece MA, Chakrapani A.

J Inherit Metab Dis. 2005;28(5):791-2.

PMID:
16151912
39.

The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model.

Mehta A, Hindmarsh PC, Stanhope RG, Turton JP, Cole TJ, Preece MA, Dattani MT.

Clin Endocrinol (Oxf). 2005 Aug;63(2):223-31.

PMID:
16060918
40.

Catch-up growth or regression to the mean? Recovery from stunting revisited.

Cameron N, Preece MA, Cole TJ.

Am J Hum Biol. 2005 Jul-Aug;17(4):412-7.

PMID:
15981181
41.

Hyperinsulinism in tyrosinaemia type I.

Baumann U, Preece MA, Green A, Kelly DA, McKiernan PJ.

J Inherit Metab Dis. 2005;28(2):131-5.

PMID:
15877201
42.

Sudden unexpected death in infancy (SUDI).

Loughrey CM, Preece MA, Green A.

J Clin Pathol. 2005 Jan;58(1):20-1. Review. No abstract available.

43.

Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency.

Clarke CE, Alger S, Preece MA, Burdon MA, Chavda S, Denis S, Ferdinandusse S, Wanders RJ.

Neurology. 2004 Jul 13;63(1):188-9. Review. No abstract available.

PMID:
15249642
44.

Imprinted methylation profiles for proximal mouse chromosomes 11 and 7 as revealed by methylation-sensitive representational difference analysis.

Monk D, Smith R, Arnaud P, Preece MA, Stanier P, Beechey CV, Peters J, Kelsey G, Moore GE.

Mamm Genome. 2003 Dec;14(12):805-16.

PMID:
14724735
45.
46.

Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children.

Mehta A, Hindmarsh PC, Stanhope RG, Brain CE, Preece MA, Dattani MT.

J Clin Endocrinol Metab. 2003 Dec;88(12):5696-703.

PMID:
14671155
47.

Creutzfeldt-Jakob disease in United Kingdom patients treated with human pituitary growth hormone.

Swerdlow AJ, Higgins CD, Adlard P, Jones ME, Preece MA.

Neurology. 2003 Sep 23;61(6):783-91.

PMID:
14504321
48.

Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC.

Gissen P, Preece MA, Willshaw HA, McKiernan PJ.

J Inherit Metab Dis. 2003;26(1):13-6.

PMID:
12872835
49.

Dopamine depletion of the nucleus accumbens reverses isolation-induced deficits in prepulse inhibition in rats.

Powell SB, Geyer MA, Preece MA, Pitcher LK, Reynolds GP, Swerdlow NR.

Neuroscience. 2003;119(1):233-40.

PMID:
12763084
50.

The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome.

Bentley L, Nakabayashi K, Monk D, Beechey C, Peters J, Birjandi Z, Khayat FE, Patel M, Preece MA, Stanier P, Scherer SW, Moore GE.

J Med Genet. 2003 Apr;40(4):249-56. Erratum in: J Med Genet. 2004 Aug;41(8):640.

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