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Friedreich Ataxia in Classical Galactosaemia.
Neville S, O'Sullivan S, Sweeney B, Lynch B, Hanrahan D, Knerr I, Lynch SA, Crushell E. Neville S, et al. Among authors: crushell e. JIMD Rep. 2016;26:1-5. doi: 10.1007/8904_2015_477. Epub 2015 Jul 29. JIMD Rep. 2016. PMID: 26219880 Free PMC article.
N-glycan abnormalities in children with galactosemia.
Coss KP, Hawkes CP, Adamczyk B, Stöckmann H, Crushell E, Saldova R, Knerr I, Rubio-Gozalbo ME, Monavari AA, Rudd PM, Treacy EP. Coss KP, et al. Among authors: crushell e. J Proteome Res. 2014 Feb 7;13(2):385-94. doi: 10.1021/pr4008305. Epub 2013 Dec 20. J Proteome Res. 2014. PMID: 24359113
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW. Alston CL, et al. Among authors: crushell e. J Med Genet. 2016 Sep;53(9):634-41. doi: 10.1136/jmedgenet-2015-103576. Epub 2016 Apr 18. J Med Genet. 2016. PMID: 27091925 Free PMC article.
84 results