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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: thony b. 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.
Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.
Korner G, Noain D, Ying M, Hole M, Flydal MI, Scherer T, Allegri G, Rassi A, Fingerhut R, Becu-Villalobos D, Pillai S, Wueest S, Konrad D, Lauber-Biason A, Baumann CR, Bindoff LA, Martinez A, Thöny B. Korner G, et al. Among authors: thony b. Brain. 2015 Oct;138(Pt 10):2948-63. doi: 10.1093/brain/awv224. Epub 2015 Aug 14. Brain. 2015. PMID: 26276013 Free article.
Hepatocyte Transfection in Small Pigs After Weaning by Hydrodynamic Intraportal Injection of Naked DNA/Minicircle Vectors.
Stoller F, Schlegel A, Viecelli HM, Rüfenacht V, Cesarovic N, Viecelli C, Deplazes S, Bettschart R, Hurter K, Schmierer P, Sidler X, Kron P, Dutkowski P, Graf R, Thöny B, Häberle J. Stoller F, et al. Among authors: thony b. Hum Gene Ther Methods. 2015 Oct;26(5):181-92. doi: 10.1089/hgtb.2014.140. Epub 2015 Sep 23. Hum Gene Ther Methods. 2015. PMID: 26398117 Free article.
Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.
Korner G, Scherer T, Adamsen D, Rebuffat A, Crabtree M, Rassi A, Scavelli R, Homma D, Ledermann B, Konrad D, Ichinose H, Wolfrum C, Horsch M, Rathkolb B, Klingenspor M, Beckers J, Wolf E, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Blau N, Rozman J, Thöny B. Korner G, et al. Among authors: thony b. J Inherit Metab Dis. 2016 Mar;39(2):309-19. doi: 10.1007/s10545-015-9909-6. Epub 2016 Feb 1. J Inherit Metab Dis. 2016. PMID: 26830550
181 results