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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: unal o. 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
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.
Ozgul RK, Karaca M, Kilic M, Kucuk O, Yucel-Yilmaz D, Unal O, Hismi B, Aliefendioglu D, Sivri S, Tokatli A, Coskun T, Dursun A. Ozgul RK, et al. Among authors: unal o. Eur J Med Genet. 2014 Oct;57(10):596-601. doi: 10.1016/j.ejmg.2014.08.006. Epub 2014 Sep 8. Eur J Med Genet. 2014. PMID: 25220015
Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes.
Gündüz M, Ünal Ö, Küçükçongar-Yavaş A, Kasapkara Ç. Gündüz M, et al. Among authors: unal o. Turk J Pediatr. 2019;61(2):289-291. doi: 10.24953/turkjped.2019.02.023. Turk J Pediatr. 2019. PMID: 31951345 Free article.
Gunduz M, Unal O, Kucukcongar-Yavas A, Kasapkara C. Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes. ...
Gunduz M, Unal O, Kucukcongar-Yavas A, Kasapkara C. Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevate …
443 results