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Catalogue of inherited disorders found among the Irish Traveller population.
Lynch SA, Crushell E, Lambert DM, Byrne N, Gorman K, King MD, Green A, O'Sullivan S, Browne F, Hughes J, Knerr I, Monavari AA, Cotter M, McConnell VPM, Kerr B, Jones SA, Keenan C, Murphy N, Cody D, Ennis S, Turner J, Irvine AD, Casey J. Lynch SA, et al. Among authors: crushell e. J Med Genet. 2018 Apr;55(4):233-239. doi: 10.1136/jmedgenet-2017-104974. Epub 2018 Jan 22. J Med Genet. 2018. PMID: 29358271
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Conte F, Morava E, Bakar NA, Wortmann SB, Poerink AJ, Grunewald S, Crushell E, Al-Gazali L, de Vries MC, Mørkrid L, Hertecant J, Brocke Holmefjord KS, Kronn D, Feigenbaum A, Fingerhut R, Wong SY, van Scherpenzeel M, Voermans NC, Lefeber DJ. Conte F, et al. Among authors: crushell e. Mol Genet Metab. 2020 Sep-Oct;131(1-2):135-146. doi: 10.1016/j.ymgme.2020.08.003. Epub 2020 Sep 17. Mol Genet Metab. 2020. PMID: 33342467 Free article.
Amino Acids and Inherited Amino Acid-Related Disorders.
Knerr I, Bernstein L, Crushell E, O'Sullivan S, Sass JO. Knerr I, et al. Among authors: crushell e. J Nutr Metab. 2018 Sep 10;2018:5629454. doi: 10.1155/2018/5629454. eCollection 2018. J Nutr Metab. 2018. PMID: 30275990 Free PMC article. No abstract available.
Identification of a mutation in LARS as a novel cause of infantile hepatopathy.
Casey JP, McGettigan P, Lynam-Lennon N, McDermott M, Regan R, Conroy J, Bourke B, O'Sullivan J, Crushell E, Lynch S, Ennis S. Casey JP, et al. Among authors: crushell e. Mol Genet Metab. 2012 Jul;106(3):351-8. doi: 10.1016/j.ymgme.2012.04.017. Epub 2012 Apr 26. Mol Genet Metab. 2012. PMID: 22607940
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