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A patient with mitochondrial disorder due to a novel mutation in MRPS22.
Kılıç M, Oğuz KK, Kılıç E, Yüksel D, Demirci H, Sağıroğlu MŞ, Yücel-Yılmaz D, Özgül RK. Kılıç M, et al. Among authors: kilic e. Metab Brain Dis. 2017 Oct;32(5):1389-1393. doi: 10.1007/s11011-017-0074-5. Epub 2017 Jul 27. Metab Brain Dis. 2017. PMID: 28752220
PMM2-CDG and sensorineural hearing loss.
Kasapkara ÇS, Barış Z, Kılıç M, Yüksel D, Keldermans L, Matthijs G, Jaeken J. Kasapkara ÇS, et al. Among authors: kilic m. J Inherit Metab Dis. 2017 Sep;40(5):629-630. doi: 10.1007/s10545-017-0073-z. Epub 2017 Jul 31. J Inherit Metab Dis. 2017. PMID: 28762107 No abstract available.
First manifestation of citrullinemia type I as Sandifer syndrome.
Kılıç M, Altınel-Açoğlu E, Zorlu P, Yüksel D, Bülbül S, Haeberle J. Kılıç M, et al. Turk J Pediatr. 2017;59(6):696-698. doi: 10.24953/turkjped.2017.06.013. Turk J Pediatr. 2017. PMID: 30035404 Free article.
Kilic M, Altinel-Acoglu E, Zorlu P, Yuksel D, Bulbul S, Haeberle J. ...
Kilic M, Altinel-Acoglu E, Zorlu P, Yuksel D, Bulbul S, Haeberle J. ...
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
Kılıç M, Şenel S, Karaer K, Ceylaner S. Kılıç M, et al. Turk J Pediatr. 2017;59(6):708-710. doi: 10.24953/turkjped.2017.06.016. Turk J Pediatr. 2017. PMID: 30035407 Free article.
Kilic M, Senel S, Karaer K, Ceylaner S. Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency. ...
Kilic M, Senel S, Karaer K, Ceylaner S. Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase defi …
A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.
Olgac A, Öztoprak Ü, Kasapkara ÇS, Kılıç M, Yüksel D, Derinkuyu EB, Taşçı Yıldız Y, Ceylaner S, Ezgu FS. Olgac A, et al. Among authors: kilic m. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):165-170. doi: 10.1515/jpem-2019-0245. J Pediatr Endocrinol Metab. 2020. PMID: 31821167
820 results