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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: ceylan ac. Mol Genet Metab. 2023 Jul;139(3):107624. doi: 10.1016/j.ymgme.2023.107624. Epub 2023 Jun 2. Mol Genet Metab. 2023. PMID: 37348148 Free article.
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: ceylan ac. 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: ceylan ac. 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: ceylan ac. Mol Syndromol. 2023 Feb;14(1):30-34. doi: 10.1159/000525100. Epub 2022 Jun 21. Mol Syndromol. 2023. PMID: 36777709 Free PMC article.
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: ceylan ac. 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: ceylan ac. Mol Syndromol. 2023 Apr;14(2):171-174. doi: 10.1159/000527538. Epub 2023 Jan 13. Mol Syndromol. 2023. PMID: 37064335 Free PMC article.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Kuseyri Hübschmann O, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: ceylan ac. Mol Genet Metab. 2023 Aug;139(4):107647. doi: 10.1016/j.ymgme.2023.107647. Epub 2023 Jul 7. Mol Genet Metab. 2023. PMID: 37453860 No abstract available.
42 results