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Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.
Mol Syndromol. 2024 Mar;15(2):130-135. doi: 10.1159/000534587. Epub 2023 Nov 8.
Mol Syndromol. 2024.
PMID: 38585541
Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.
Engin Erdal A, Yürek B, Kıreker Köylü O, Ceylan AC, Çıtak Kurt AN, Kasapkara ÇS.
Engin Erdal A, et al. Among authors: kireker koylu o.
J Pediatr Endocrinol Metab. 2024 Feb 6;37(3):271-275. doi: 10.1515/jpem-2023-0481. Print 2024 Mar 25.
J Pediatr Endocrinol Metab. 2024.
PMID: 38353247
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Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease.
Civelek Ürey B, Ceylan AC, Çavdarlı B, Çıtak Kurt AN, Kıreker Köylü O, Yürek B, Kasapkara ÇS.
Civelek Ürey B, et al. Among authors: kireker koylu o.
Mol Syndromol. 2023 Dec;14(6):459-460. doi: 10.1159/000531668. Epub 2023 Aug 18.
Mol Syndromol. 2023.
PMID: 38058758
Free PMC article.
No abstract available.
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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.
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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.
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Two Different Diseases with Uric Acid Abnormality in the Same Patient: Be Careful About Routine Biochemical Tests!
Yürek B, Kılıç E, Özlü SG, Civelek-Ürey B, Kıreker-Köylü O, Özen-Yeşil B, Kasapkara CS.
Yürek B, et al. Among authors: kireker koylu o.
Klin Padiatr. 2023 Sep;235(5):308-309. doi: 10.1055/a-1906-1113. Epub 2022 Sep 8.
Klin Padiatr. 2023.
PMID: 36075239
English.
No abstract available.
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Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype.
Ceylan AC, Kireker Köylü O, Özyürek H, Özaydin E, Yön Mİ, Kasapkara ÇS.
Ceylan AC, et al. Among authors: kireker koylu o.
Acta Neurol Belg. 2023 Oct;123(5):1757-1761. doi: 10.1007/s13760-022-02044-6. Epub 2022 Jul 26.
Acta Neurol Belg. 2023.
PMID: 35881308
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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
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