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Page 1
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Life (Basel). 2022 Oct 27;12(11):1721. doi: 10.3390/life12111721.
Life (Basel). 2022.
PMID: 36362876
Free PMC article.
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: chronopoulou e.
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.
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Research activity and capability in the European reference network MetabERN.
Heard JM, Bellettato C, van Lingen C, Scarpa M; MetabERN collaboration group.
Heard JM, et al.
Orphanet J Rare Dis. 2019 May 29;14(1):119. doi: 10.1186/s13023-019-1091-8.
Orphanet J Rare Dis. 2019.
PMID: 31142374
Free PMC article.
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MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS.
Ng YS, et al. Among authors: chronopoulou e.
EBioMedicine. 2018 Apr;30:86-93. doi: 10.1016/j.ebiom.2018.02.010. Epub 2018 Feb 24.
EBioMedicine. 2018.
PMID: 29506874
Free PMC article.
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A toddler with worsening gait and leopard skin sign on MRI.
Ghani S, Williams T, Likeman M, Chronopoulou E.
Ghani S, et al. Among authors: chronopoulou e.
Arch Dis Child. 2018 Apr;103(4):398. doi: 10.1136/archdischild-2017-312785. Epub 2017 Jun 30.
Arch Dis Child. 2018.
PMID: 28667122
No abstract available.
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