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Search life-sciences literature (45,100,050 articles, preprints and more)

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Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.
Cantley NWP, Barski R, Kemp H, Hogg SL, Wu HYT, Bowron A, Collingwood C, Cundick J, Hart C, Shakespeare L, Preece MA, Aitkenhead H, Smith S, Carling RS, Moat SJ
Int J Neonatal Screen, 10(1):2, 22 Dec 2023
Cited by: 1 article | PMID: 38248630 | PMCID: PMC10801530
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Magnetic resonance imaging shows spinal curvature in Chinook salmon (Oncorhynchus tshawytscha) is associated with chronic inflammation of peri-vertebral soft tissues.
Lovett BA, Firth EC, Perrott MR, Munday JS, Pontre BP, Lydon AP, Symonds JE, Preece MA, Herbert NA
J Fish Dis, 47(3):e13900, 06 Dec 2023
Cited by: 0 articles | PMID: 38058214
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A case series of cerebral venous thrombosis as the first manifestation of homocystinuria.
Ochoa-Ferraro A, Wanninayake S, Dawson C, Gerrard A, Preece MA, Geberhiwot T
Eur Stroke J, 6(4):420-427, 12 Nov 2021
Cited by: 1 article | PMID: 35342812 | PMCID: PMC8948514
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Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!
Fernando M, Vijay S, Santra S, Preece MA, Brown R, Rodrigues A, Gupte GL
Euroasian J Hepatogastroenterol, 11(2):100-102, 01 Jul 2021
Cited by: 2 articles | PMID: 34786365 | PMCID: PMC8566159
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Radiographic characterisation of spinal curvature development in farmed New Zealand Chinook salmon Oncorhynchus tshawytscha throughout seawater production.
Lovett BA, Firth EC, Tuck ID, Symonds JE, Walker SP, Perrott MR, Davie PS, Munday JS, Preece MA, Herbert NA
Sci Rep, 10(1):20039, 18 Nov 2020
Cited by: 1 article | PMID: 33208797 | PMCID: PMC7674505
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Failure of national antenatal vitamin D supplementation programme puts dark skinned infants at highest risk: A newborn bloodspot screening study.
Uday S, Naseem S, Large J, Denmeade R, Goddard P, Preece MA, Dunn R, Fraser W, Tang JCY, Högler W
Clin Nutr, 40(5):3542-3551, 11 Dec 2020
Cited by: 5 articles | PMID: 33358424
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Type I collagen differences in farmed Chinook salmon (Oncorhynchus tshawytscha) in New Zealand
Perrott MR, Lovett BA, De Clercq A, Davie PS, Munday JS, Morel PCH, Preece MA, Symonds JE, Walker SP, Loo T, Norris G, Naffa R
Aquaculture, 525:Not Available, 01 Aug 2020
Cited by: 0 articles | AGR: IND606868646
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Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1.
Yilmaz O, Daly A, Pinto A, Ashmore C, Evans S, Gupte G, Santra S, Preece MA, Mckiernan P, Kitchen S, Ayhan NY, MacDonald A
Nutrients, 12(4):E1148, 19 Apr 2020
Cited by: 6 articles | PMID: 32325917 | PMCID: PMC7230348
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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, [...] Horvath R
J Inherit Metab Dis, 43(2):297-308, 13 Aug 2019
Cited by: 29 articles | PMID: 31339582 | PMCID: PMC7078914
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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, [...] Banka S
J Inherit Metab Dis, 42(5):809-817, 01 Aug 2019
Cited by: 12 articles | PMID: 31177572
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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, 10:27, 01 Feb 2019
Cited by: 8 articles | PMID: 30774649 | PMCID: PMC6367901
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Investigating a relationship between body composition and spinal curvature in farmed adult New Zealand king salmon (Oncorhynchus tshawytscha): A novel application of dual-energy X-ray absorptiometry
Lovett BA, Firth EC, Plank LD, Symonds JE, Preece MA, Herbert NA
Aquaculture, 502:48-55, 01 Mar 2019
Cited by: 0 articles | AGR: IND606257790
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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, 279(9):1301-1311, 06 Sep 2018
Cited by: 1 article | PMID: 30187932
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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, 28 May 2018
Cited by: 3 articles | PMID: 29806079
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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, 41(7):1111-1116, 30 Mar 2018
Cited by: 3 articles | PMID: 29600512
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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, 31(3):297-304, 01 Mar 2018
Cited by: 2 articles | PMID: 29425111
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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, 1864(3):952-958, 26 Dec 2017
Cited by: 43 articles | PMID: 29287774
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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, 41(3):511-527, 21 Nov 2017
Cited by: 4 articles | PMID: 29159824
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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, 231(4):500-514, 31 Jul 2017
Cited by: 11 articles | PMID: 28762509
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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, 10:28-30, 22 Dec 2016
Cited by: 7 articles | PMID: 28053874 | PMCID: PMC5198737
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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, 102(1):28-36, 24 Aug 2016
Cited by: 1 article | PMID: 27557839
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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, 121(3):211-221, 01 Oct 2016
Cited by: 4 articles | PMID: 27786159
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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, 172:181-186.e1, 16 Feb 2016
Cited by: 12 articles | PMID: 26896157
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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, 118(1):21-27, 04 Mar 2016
Cited by: 10 articles | PMID: 26971250
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Outcome of children with hereditary tyrosinaemia following newborn screening.
McKiernan PJ, Preece MA, Chakrapani A
Arch Dis Child, 100(8):738-741, 06 Jan 2015
Cited by: 22 articles | PMID: 25564536
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