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Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PD. Fitzsimons PE, et al. Among authors: twomey e. Am J Med Genet A. 2018 May;176(5):1115-1127. doi: 10.1002/ajmg.a.38658. Epub 2018 Mar 25. Am J Med Genet A. 2018. PMID: 29575569 Free PMC article.
Outcomes of siblings with classical galactosemia.
Hughes J, Ryan S, Lambert D, Geoghegan O, Clark A, Rogers Y, Hendroff U, Monavari A, Twomey E, Treacy EP. Hughes J, et al. Among authors: twomey e. J Pediatr. 2009 May;154(5):721-6. doi: 10.1016/j.jpeds.2008.11.052. Epub 2009 Feb 1. J Pediatr. 2009. PMID: 19181333
Perinatal tumours: the contribution of radiology to management.
Donoghue V, Ryan S, Twomey E. Donoghue V, et al. Among authors: twomey e. Pediatr Radiol. 2008 Jun;38 Suppl 3:S477-83. doi: 10.1007/s00247-008-0841-x. Pediatr Radiol. 2008. PMID: 18470458 Review. No abstract available.
Neuroimaging findings in glutaric aciduria type 1.
Twomey EL, Naughten ER, Donoghue VB, Ryan S. Twomey EL, et al. Pediatr Radiol. 2003 Dec;33(12):823-30. doi: 10.1007/s00247-003-0956-z. Epub 2003 Oct 8. Pediatr Radiol. 2003. PMID: 14534757
Yield of brain MRI in children with autism spectrum disorder.
Byrne D, Fisher A, Baker L, Twomey EL, Gorman KM. Byrne D, et al. Among authors: twomey el. Eur J Pediatr. 2023 Aug;182(8):3603-3609. doi: 10.1007/s00431-023-05011-2. Epub 2023 May 25. Eur J Pediatr. 2023. PMID: 37227501 Free PMC article.
84 results