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16 results

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Page 1
In vivo prime editing of a metabolic liver disease in mice.
Böck D, Rothgangl T, Villiger L, Schmidheini L, Matsushita M, Mathis N, Ioannidi E, Rimann N, Grisch-Chan HM, Kreutzer S, Kontarakis Z, Kopf M, Thöny B, Schwank G. Böck D, et al. Among authors: rimann n. Sci Transl Med. 2022 Mar 16;14(636):eabl9238. doi: 10.1126/scitranslmed.abl9238. Epub 2022 Mar 16. Sci Transl Med. 2022. PMID: 35294257 Free PMC article.
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. Allegri G, et al. Among authors: rimann n. J Inherit Metab Dis. 2019 Nov;42(6):1064-1076. doi: 10.1002/jimd.12068. Epub 2019 Mar 13. J Inherit Metab Dis. 2019. PMID: 30714172 Review.
Therapeutic liver cell transplantation to treat murine PKU.
Willimann M, Grisch-Chan HM, Rimann N, Rothgangl T, Hruzova M, Schwank G, Thöny B. Willimann M, et al. Among authors: rimann n. J Inherit Metab Dis. 2024 Nov;47(6):1322-1335. doi: 10.1002/jimd.12802. Epub 2024 Oct 24. J Inherit Metab Dis. 2024. PMID: 39449255 Free PMC article.
Biochemical and behavioural profile of NTBC treated Tyrosinemie type 1 mice.
van Ginkel WG, Winn SR, Dudley S, Krenik D, Perez R, Rimann N, Thöny B, Raber J, Harding CO. van Ginkel WG, et al. Among authors: rimann n. Mol Genet Metab. 2022 Sep-Oct;137(1-2):9-17. doi: 10.1016/j.ymgme.2022.07.001. Epub 2022 Jul 8. Mol Genet Metab. 2022. PMID: 35868243
Intrabiliary infusion of naked DNA vectors targets periportal hepatocytes in mice.
Deplazes S, Schlegel A, Song Z, Allegri G, Rimann N, Scherer T, Willimann M, Opitz L, Cunningham SC, Alexander IE, Kipar A, Häberle J, Thöny B, Grisch-Chan HM. Deplazes S, et al. Among authors: rimann n. Mol Ther Methods Clin Dev. 2022 Oct 10;27:352-367. doi: 10.1016/j.omtm.2022.10.006. eCollection 2022 Dec 8. Mol Ther Methods Clin Dev. 2022. PMID: 36381301 Free PMC article.
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. Zabulica M, et al. Among authors: rimann n. Mol Ther. 2021 May 5;29(5):1903-1917. doi: 10.1016/j.ymthe.2021.01.024. Epub 2021 Jan 21. Mol Ther. 2021. PMID: 33484963 Free PMC article.
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