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Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.
O'Reilly D, Crushell E, Hughes J, Ryan S, Rogers Y, Borovickova I, Mayne P, Riordan M, Awan A, Carson K, Hunter K, Lynch B, Shahwan A, Rüfenacht V, Häberle J, Treacy EP, Monavari AA, Knerr I. O'Reilly D, et al. Among authors: mayne p. J Inherit Metab Dis. 2021 May;44(3):639-655. doi: 10.1002/jimd.12337. Epub 2020 Dec 20. J Inherit Metab Dis. 2021. PMID: 33300147
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: mayne p. 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.
Type 1 Tyrosinaemia.
Mannion MA, Smith A, Mayne P, Monavari AA. Mannion MA, et al. Among authors: mayne p. Ir Med J. 2016 Jun 10;109(6):426. Ir Med J. 2016. PMID: 27814443
Glutaric aciduria type I: outcome in the Republic of Ireland.
Naughten ER, Mayne PD, Monavari AA, Goodman SI, Sulaiman G, Croke DT. Naughten ER, et al. Among authors: mayne pd. J Inherit Metab Dis. 2004;27(6):917-20. doi: 10.1023/B:BOLI.0000045777.82784.74. J Inherit Metab Dis. 2004. PMID: 15505400
[No title available]
[No authors listed] [No authors listed] PMID: 32212602
124 results