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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2010 1
2011 3
2012 2
2013 12
2014 10
2015 7
2016 2
2017 5
2018 6
2019 9
2020 8
2021 10
2022 8
2023 16
2024 5

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84 results

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Page 1
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Seker Yilmaz B, Baruteau J, Arslan N, Aydin HI, Barth M, Bozaci AE, Brassier A, Canda E, Cano A, Chronopoulou E, Connolly GM, Damaj L, Dawson C, Dobbelaere D, Douillard C, Eminoglu FT, Erdol S, Ersoy M, Fang S, Feillet F, Gokcay G, Goksoy E, Gorce M, Inci A, Kadioglu B, Kardas F, Kasapkara CS, Kilic Yildirim G, Kor D, Kose M, Marelli C, Mundy H, O'Sullivan S, Ozturk Hismi B, Ramachandran R, Roubertie A, Sanlilar M, Schiff M, Sreekantam S, Stepien KM, Uzun Unal O, Yildiz Y, Zubarioglu T, Gissen P. Seker Yilmaz B, et al. Among authors: kasapkara cs. Life (Basel). 2022 Oct 27;12(11):1721. doi: 10.3390/life12111721. Life (Basel). 2022. PMID: 36362876 Free PMC article.
Fasteninduzierte Rhabdomyolyse bei einem jugendlichen Mädchen.
Yucel H, Polat E, Akcaboy M, Senel S, Kasapkara CS. Yucel H, et al. Among authors: kasapkara cs. Klin Padiatr. 2020 Jan;232(1):35-36. doi: 10.1055/a-1061-7384. Epub 2019 Dec 17. Klin Padiatr. 2020. PMID: 31847011 No abstract available.
SRD5A3-CDG: A Patient with a Novel Variant and Brain Neoplasm.
Kasapkara CS, Olgac A, Derinkuyu BE, Oztoprak U, Jaeken J. Kasapkara CS, et al. J Coll Physicians Surg Pak. 2022 Dec;32(12):SS221-SS226. doi: 10.29271/jcpsp.2022.Supp0.SS221. J Coll Physicians Surg Pak. 2022. PMID: 36597345 Review.
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: kasapkara cs. 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.
MAN1B1-CDG: novel patients and novel variant.
Kasapkara CS, Olgac A, Kilic M, Keldermans L, Matthijs G, Jaeken J. Kasapkara CS, et al. J Pediatr Endocrinol Metab. 2021 Jun 24;34(9):1207-1209. doi: 10.1515/jpem-2021-0038. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34162022
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: kasapkara cs. 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.
PMM2-CDG and sensorineural hearing loss.
Kasapkara ÇS, Barış Z, Kılıç M, Yüksel D, Keldermans L, Matthijs G, Jaeken J. Kasapkara ÇS, et al. 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.
Secondary Hemophagocytosis in Propionic Acidemia.
Kasapkara CS, Kangin M, Oflaz Ozmen B, Ozbek MN, Demir R, Karatas M, Tumer L, Ezgu FS, Hasanoglu A. Kasapkara CS, et al. Iran J Pediatr. 2015 Jun;25(3):e339. doi: 10.5812/ijp.25(3)2015.339. Epub 2015 Jun 27. Iran J Pediatr. 2015. PMID: 26199705 Free PMC article. No abstract available.
84 results