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Journal Abstract Search

172 related items for PubMed ID: 33336822

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  • 2. Correction of a urea cycle defect after ex vivo gene editing of human hepatocytes.
    Zabulica M, Srinivasan RC, Akcakaya P, Allegri G, Bestas B, Firth M, Hammarstedt C, Jakobsson T, Jakobsson T, Ellis E, Jorns C, Makris G, Scherer T, Rimann N, van Zuydam NR, Gramignoli R, Forslöw A, Engberg S, Maresca M, Rooyackers O, Thöny B, Häberle J, Rosen B, Strom SC.
    Mol Ther; 2021 May 05; 29(5):1903-1917. PubMed ID: 33484963
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  • 4. Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome.
    Wang L, Morizono H, Lin J, Bell P, Jones D, McMenamin D, Yu H, Batshaw ML, Wilson JM.
    Mol Genet Metab; 2012 Feb 05; 105(2):203-11. PubMed ID: 22133298
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  • 5. Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.
    Zhou Y, Jiang X, Zhang Y, Zhang Y, Sun F, Ma Y.
    BMC Pregnancy Childbirth; 2024 Jul 22; 24(1):491. PubMed ID: 39039447
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  • 8. Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies.
    Cunningham SC, van Dijk EB, Zhu E, Sugden M, Mandwie M, Siew S, Devanapalli B, Tolun AA, Klein A, Wilson L, Aryamanesh N, Gissen P, Baruteau J, Bhattacharya K, Alexander IE.
    Hum Gene Ther; 2023 Sep 22; 34(17-18):917-926. PubMed ID: 37350098
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  • 14. Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors.
    Rahayatri TH, Uchida H, Sasaki K, Shigeta T, Hirata Y, Kanazawa H, Mali V, Fukuda A, Sakamoto S, Kasahara M.
    Pediatr Transplant; 2017 Feb 22; 21(1):. PubMed ID: 27891735
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  • 17. Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification.
    Allegri G, Deplazes S, Rimann N, Causton B, Scherer T, Leff JW, Diez-Fernandez C, Klimovskaia A, Fingerhut R, Krijt J, Kožich V, Nuoffer JM, Grisch-Chan HM, Thöny B, Häberle J.
    J Inherit Metab Dis; 2019 Nov 22; 42(6):1064-1076. PubMed ID: 30714172
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