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Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.
Hu L, Diez-Fernandez C, Rüfenacht V, Hismi BÖ, Ünal Ö, Soyucen E, Çoker M, Bayraktar BT, Gunduz M, Kiykim E, Olgac A, Pérez-Tur J, Rubio V, Häberle J. Hu L, et al. Mol Genet Metab. 2014 Dec;113(4):267-73. doi: 10.1016/j.ymgme.2014.09.014. Epub 2014 Oct 7. Mol Genet Metab. 2014. PMID: 25410056
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: diez fernandez c. 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.
55 results