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Page 1
Malonyl coenzyme A decarboxylase deficiency with a novel mutation.
Kasapkara CS, Civelek Ürey B, Ceylan AC, Ünal Uzun Ö, Çetin II. Kasapkara CS, et al. Among authors: civelek urey b. Cardiol Young. 2021 Sep;31(9):1535-1537. doi: 10.1017/S104795112100113X. Epub 2021 Mar 22. Cardiol Young. 2021. PMID: 33745485
SLC35A2-CDG: novel variants with two ends of the spectrum.
Kasapkara ÇS, Ceylan AC, Özyürek H, Karakaya Molla G, Civelek Ürey B, Kıreker Köylü O, Küçükçongar Yavaş A, Sönmez FM. Kasapkara ÇS, et al. Among authors: civelek urey b. J Pediatr Endocrinol Metab. 2021 Jun 22;34(9):1185-1189. doi: 10.1515/jpem-2021-0292. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34161696
CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C.
Kasapkara ÇS, Ceylan AC, Yılmaz D, Kıreker Köylü O, Yürek B, Civelek Ürey B, Gündüz M. Kasapkara ÇS, et al. Among authors: civelek urey b. Mol Syndromol. 2023 Feb;14(1):30-34. doi: 10.1159/000525100. Epub 2022 Jun 21. Mol Syndromol. 2023. PMID: 36777709 Free PMC article.