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Impact of small molecule-mediated inhibition of ammonia detoxification on lung malignancies and liver metabolism.
Makris G, Kayhan S, Kreuzer M, Rüfenacht V, Faccin E, Underhaug J, Diez-Fernandez C, Knobel PA, Poms M, Gougeard N, Rubio V, Martinez A, Pruschy M, Häberle J. Makris G, et al. Among authors: haberle j. Cancer Commun (Lond). 2023 Apr;43(4):508-512. doi: 10.1002/cac2.12402. Epub 2023 Jan 28. Cancer Commun (Lond). 2023. PMID: 36708276 Free PMC article. No abstract available.
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: haberle j. 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
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.
Diez-Fernandez C, Rüfenacht V, Santra S, Lund AM, Santer R, Lindner M, Tangeraas T, Unsinn C, de Lonlay P, Burlina A, van Karnebeek CD, Häberle J. Diez-Fernandez C, et al. Among authors: haberle j. Genet Med. 2016 Oct;18(10):991-1000. doi: 10.1038/gim.2015.201. Epub 2016 Feb 25. Genet Med. 2016. PMID: 26913920 Free article.
217 results