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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2008 2
2011 1
2012 1
2013 1
2014 2
2015 1
2016 2
2017 1
2018 2
2020 2
2021 2
2023 1
2024 0

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Page 1
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. Cantley NWP, et al. Among authors: preece ma. Int J Neonatal Screen. 2023 Dec 22;10(1):2. doi: 10.3390/ijns10010002. Int J Neonatal Screen. 2023. PMID: 38248630 Free PMC article.
Renal transplantation in a boy with methylmalonic acidaemia.
Clothier JC, Chakrapani A, Preece MA, McKiernan P, Gupta R, Macdonald A, Hulton SA. Clothier JC, et al. Among authors: preece ma. J Inherit Metab Dis. 2011 Jun;34(3):695-700. doi: 10.1007/s10545-011-9303-y. Epub 2011 Mar 17. J Inherit Metab Dis. 2011. PMID: 21416195
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. van Karnebeek CD, et al. Among authors: preece ma. Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13. Am J Hum Genet. 2014. PMID: 24530203 Free PMC article.
17 results