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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, Olpin SE, Banka S. Knerr I, et al. Among authors: preece ma. J Inherit Metab Dis. 2019 Sep;42(5):809-817. doi: 10.1002/jimd.12135. Epub 2019 Aug 1. J Inherit Metab Dis. 2019. PMID: 31177572 Free article.
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. Mingirulli N, et al. Among authors: preece ma. J Inherit Metab Dis. 2020 Mar;43(2):297-308. doi: 10.1002/jimd.12156. Epub 2019 Aug 13. J Inherit Metab Dis. 2020. PMID: 31339582 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
Outcome of tyrosinaemia type III.
Ellaway CJ, Holme E, Standing S, Preece MA, Green A, Ploechl E, Ugarte M, Trefz FK, Leonard JV. Ellaway CJ, et al. Among authors: preece ma. J Inherit Metab Dis. 2001 Dec;24(8):824-32. doi: 10.1023/a:1013936107064. J Inherit Metab Dis. 2001. PMID: 11916315
Hyperinsulinism in tyrosinaemia type I.
Baumann U, Preece MA, Green A, Kelly DA, McKiernan PJ. Baumann U, et al. Among authors: preece ma. J Inherit Metab Dis. 2005;28(2):131-5. doi: 10.1007/s10545-005-5517-1. J Inherit Metab Dis. 2005. PMID: 15877201
286 results