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Page 1
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.
Seker Yilmaz B, Baruteau J, Chakrapani A, Champion M, Chronopoulou E, Claridge LC, Daly A, Davies C, Davison J, Dhawan A, Grunewald S, Gupte GL, Heaton N, Lemonde H, McKiernan P, Mills P, Morris AAM, Mundy H, Pierre G, Rajwal S, Sivananthan S, Sreekantam S, Stepien KM, Vara R, Yeo M, Gissen P. Seker Yilmaz B, et al. Among authors: yeo m. Mol Genet Metab Rep. 2023 Nov 5;37:101020. doi: 10.1016/j.ymgmr.2023.101020. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053940 Free PMC article.
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Elkhateeb N, Olivieri G, Siri B, Boyd S, Stepien KM, Sharma R, Morris AAM, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Bernhardt I, Sudakhar S, Chan A, Mills P, Ridout D, Gissen P, Dionisi-Vici C, Baruteau J. Elkhateeb N, et al. Among authors: yeo m. Epilepsia. 2023 Jun;64(6):1612-1626. doi: 10.1111/epi.17596. Epub 2023 Apr 10. Epilepsia. 2023. PMID: 36994644
Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings.
Pickwick C, Callewaert B, van Dijk F, Harris J, Wakeling E, Hay E, Yeo M, Chakrapani A, Baptista J, Moore S, Yoong M, Chatterjee F, Ghali N. Pickwick C, et al. Among authors: yeo m. Clin Dysmorphol. 2022 Apr 1;31(2):66-70. doi: 10.1097/MCD.0000000000000404. Clin Dysmorphol. 2022. PMID: 34954732 No abstract available.
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
Gurung S, Karamched S, Perocheau D, Seunarine KK, Baldwin T, Alrashidi H, Touramanidou L, Duff C, Elkhateeb N, Stepien KM, Sharma R, Morris A, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Batzios S, Davison J, Footitt E, Tuschl K, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Frassetto A, Heales S, Mills PB, Gissen P, Clayden JD, Clark CA, Eaton S, Kalber TL, Baruteau J. Gurung S, et al. Among authors: yeo m. J Inherit Metab Dis. 2023 Dec 4. doi: 10.1002/jimd.12691. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 38044746
Neonatal head and torso vibration exposure during inter-hospital transfer.
Blaxter L, Yeo M, McNally D, Crowe J, Henry C, Hill S, Mansfield N, Leslie A, Sharkey D. Blaxter L, et al. Among authors: yeo m. Proc Inst Mech Eng H. 2017 Feb;231(2):99-113. doi: 10.1177/0954411916680235. Epub 2017 Jan 5. Proc Inst Mech Eng H. 2017. PMID: 28056712 Free PMC article.
535 results