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2021 1
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Page 1
ALG11-CDG: novel variant and review of the literature.
Erdal AE, Ceylan AC, Gücüyener K, Öktem RM, Kıreker Köylü O, Kasapkara ÇS. Erdal AE, et al. Among authors: kireker koylu o. J Pediatr Endocrinol Metab. 2023 Feb 28;36(4):409-413. doi: 10.1515/jpem-2022-0480. Print 2023 Apr 25. J Pediatr Endocrinol Metab. 2023. PMID: 36843332 Review.
Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report.
Ürey BC, Ceylan AC, Çavdarlı B, Çıtak Kurt AN, Köylü OK, Yürek B, Kasapkara ÇS. Ürey BC, et al. Among authors: koylu ok. Mol Syndromol. 2023 Apr;14(2):171-174. doi: 10.1159/000527538. Epub 2023 Jan 13. Mol Syndromol. 2023. PMID: 37064335 Free PMC article.
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: kireker koylu o. Mol Syndromol. 2023 Feb;14(1):30-34. doi: 10.1159/000525100. Epub 2022 Jun 21. Mol Syndromol. 2023. PMID: 36777709 Free PMC article.
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: kireker koylu o. 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