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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. Among authors: rufenacht v. 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
A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency.
Srinivasan RC, Zabulica M, Hammarstedt C, Wu T, Gramignoli R, Kannisto K, Ellis E, Karadagi A, Fingerhut R, Allegri G, Rüfenacht V, Thöny B, Häberle J, Nuoffer JM, Strom SC. Srinivasan RC, et al. Among authors: rufenacht v. J Inherit Metab Dis. 2019 Nov;42(6):1054-1063. doi: 10.1002/jimd.12067. Epub 2019 Apr 2. J Inherit Metab Dis. 2019. PMID: 30843237 Free article.
Response to Baertling et al.
Häberle J, Rüfenacht V. Häberle J, et al. Among authors: rufenacht v. Genet Med. 2020 Mar;22(3):656. doi: 10.1038/s41436-019-0678-8. Epub 2019 Oct 22. Genet Med. 2020. PMID: 31641284 Free article. No abstract available.
35 results