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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: kiykim e. 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
Auto brewery syndrome from the perspective of the neurologist.
Ser MH, Çalıkuşu FZ, Erener N, Destanoğlu O, Kıykım E, Siva A. Ser MH, et al. Among authors: kiykim e. J Forensic Leg Med. 2023 May;96:102514. doi: 10.1016/j.jflm.2023.102514. Epub 2023 Mar 28. J Forensic Leg Med. 2023. PMID: 37004374
Coagulation Disturbances in Patients with Argininemia.
Kiykim E, Zubarioglu T, Cansever MS, Celkan T, Häberle J, Aktuglu Zeybek AC. Kiykim E, et al. Acta Haematol. 2018;140(4):221-225. doi: 10.1159/000493678. Epub 2018 Oct 24. Acta Haematol. 2018. PMID: 30355940 Free article.
Biotinidase deficiency mimicking primary immune deficiencies.
Kiykim E, Kiykim A, Cansever MS, Zeybek CA. Kiykim E, et al. Among authors: kiykim a. BMJ Case Rep. 2015 May 8;2015:bcr2014209275. doi: 10.1136/bcr-2014-209275. BMJ Case Rep. 2015. PMID: 25956498 Free PMC article.
68 results