Výsledky vyhledávání - "Kıreker-Köylü O"

Akademický článek

Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?

Autor: Kasapkara ÇS; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Faculty of Medicine, Ankara Yıldırım Beyazıt University, Ankara, Turkey., Kıreker Köylü O; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Ankara, Turkey., Engin Erdal A; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Ankara, Turkey., Yürek B; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Ankara, Turkey., Ceylan N; Department of Pediatric Neurology, Ankara Bilkent City Hospital, Ankara, Turkey., Ceylaner S; Intergen Genetics and Rare Diseases Diagnosis Center, Ankara, Turkey.

Publikováno v: Molecular syndromology [Mol Syndromol] 2024 Aug; Vol. 15 (4), pp. 303-310. Date of Electronic Publication: 2024 Feb 23.

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Akademický článek

Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.

Autor: Engin Erdal A; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Ankara, Turkey., Kıreker Köylü O; Department of Pediatric Metabolic Diseases, Ankara Bilkent City Hospital, Ankara, Turkey., Ceylan AC; Department of Medical Genetics, Ankara Bilkent City Hospital, Faculty of Medicine, Ankara Yıldırım Beyazıt University, Ankara, Turkey., Kasapkara ÇS; Department of Pediatric Metabolic Diseases, Ankara City Hospital, Ankara Yıldırım Beyazıt University Faculty of Medicine, Ankara, Turkey., Tunçez E; Department of Medical Genetics, Ankara Bilkent City Hospital, Faculty of Medicine, Ankara Yıldırım Beyazıt University, Ankara, Turkey., Topçu M; Department of Pediatric Neurology, Hacettepe University Hospital, Ankara, Turkey.

Publikováno v: Molecular syndromology [Mol Syndromol] 2024 Mar; Vol. 15 (2), pp. 130-135. Date of Electronic Publication: 2023 Nov 08.

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Report

Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.

Autor: Engin Erdal A; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara, Türkiye., Yürek B; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara, Türkiye., Kıreker Köylü O; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara, Türkiye., Ceylan AC; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Türkiye., Çıtak Kurt AN; Department of Pediatric Neurology, Children's Hospital, Ankara Bilkent City Hospital, Ankara, Türkiye., Kasapkara ÇS; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara, Türkiye.

Publikováno v: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2024 Feb 06; Vol. 37 (3), pp. 271-275. Date of Electronic Publication: 2024 Feb 06 (Print Publication: 2024).

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Akademický článek

Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease.

Autor: Civelek Ürey B; Pediatric Metabolism, Ankara City Hospital, Ankara, Turkey., Ceylan AC; Medical Genetic, Ankara Yıldırım Beyazıt Universty, Ankara, Turkey., Çavdarlı B; Medical Genetic, Ankara Yıldırım Beyazıt Universty, Ankara, Turkey., Çıtak Kurt AN; Pediatric Neurology, Ankara City Hospital, Ankara, Turkey., Kıreker Köylü O; Pediatric Metabolism, Ankara City Hospital, Ankara, Turkey., Yürek B; Pediatric Metabolism, Ankara City Hospital, Ankara, Turkey., Kasapkara ÇS; Pediatric Metabolism, Ankara City Hospital, Ankara, Turkey.

Publikováno v: Molecular syndromology [Mol Syndromol] 2023 Dec; Vol. 14 (6), pp. 459-460. Date of Electronic Publication: 2023 Aug 18.

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Akademický článek

Two Different Diseases with Uric Acid Abnormality in the Same Patient: Be Careful About Routine Biochemical Tests!

Autor: Yürek B; Department of Pediatric Metabolism, Ankara City Hospital, Cankaya, Turkey., Kılıç E; Department of Pediatric Genetics, University of Health Sciences, Ankara City Hospital, Ankara, Turkey., Özlü SG; Department of Pediatric Nephrology, Ankara City Hospital, Ankara, Turkey., Civelek-Ürey B; Department of Pediatric Metabolism, Ankara City Hospital, Cankaya, Turkey., Kıreker-Köylü O; Department of Pediatric Metabolism, Ankara City Hospital, Ankara, Turkey., Özen-Yeşil B; Department of Nutrition and Dietetics, Ankara City Hospital, Ankara, Turkey., Kasapkara CS; Department of Pediatric Metabolism, Ankara Yıldırım Beyazıt University, Ankara City Hospital, Ankara, Turkey.

Publikováno v: Klinische Padiatrie [Klin Padiatr] 2023 Sep; Vol. 235 (5), pp. 308-309. Date of Electronic Publication: 2022 Sep 08.

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Review

ALG11-CDG: novel variant and review of the literature.

Autor: Erdal AE; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Çankaya, Ankara, Türkiye., Ceylan AC; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara Yıldırım Beyazıt University Faculty of Medicine, Çankaya, Ankara, Türkiye., Gücüyener K; Department of Pediatric Neurology, Gazi University Faculty of Medicine, Ankara, Türkiye., Öktem RM; Department of Pediatric Metabolic Diseases, Gazi University Faculty of Medicine, Ankara, Türkiye., Kıreker Köylü O; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara, Türkiye., Kasapkara ÇS; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara Yıldırım Beyazıt University Faculty of Medicine, Ankara, Türkiye.

Publikováno v: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2023 Feb 28; Vol. 36 (4), pp. 409-413. Date of Electronic Publication: 2023 Feb 28 (Print Publication: 2023).

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Report

CLN3 -Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C.

Autor: Kasapkara ÇS; Department of Pediatric Metabolism and Nutrition, Ankara City Hospital, Ankara, Turkey., Ceylan AC; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey., Yılmaz D; Department of Pediatric Neurology, Ankara City Hospital, Ankara, Turkey., Kıreker Köylü O; Department of Pediatric Metabolism and Nutrition, Ankara City Hospital, Ankara, Turkey., Yürek B; Department of Pediatric Metabolism and Nutrition, Ankara City Hospital, Ankara, Turkey., Civelek Ürey B; Department of Pediatric Metabolism and Nutrition, Ankara City Hospital, Ankara, Turkey., Gündüz M; Department of Pediatric Metabolism and Nutrition, Ankara City Hospital, Ankara, Turkey.

Publikováno v: Molecular syndromology [Mol Syndromol] 2023 Feb; Vol. 14 (1), pp. 30-34. Date of Electronic Publication: 2022 Jun 21.

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Report

SLC35A2-CDG: novel variants with two ends of the spectrum.

Autor: Kasapkara ÇS; Department of Pediatric Metabolism, Ankara City Hospital, Ankara Yıldırım Beyazıt University, Ankara, Turkey., Ceylan AC; Department of Medical Genetics, Ankara City Hospital, Ankara Yıldırım Beyazıt University, Ankara, Turkey., Özyürek H; Department of Pediatric Neurology, Ankara City Hospital, Ankara, Turkey., Karakaya Molla G; Department of Pediatric Metabolism, Ankara City Hospital, Ankara, Turkey., Civelek Ürey B; Department of Pediatric Metabolism, Ankara City Hospital, Ankara, Turkey., Kıreker Köylü O; Department of Pediatric Metabolism, Ankara City Hospital, Ankara, Turkey., Küçükçongar Yavaş A; Department of Pediatric Metabolism, Ankara City Hospital, Ankara, Turkey., Sönmez FM; Department of Pediatric Neurology, Ankara, Turkey.

Publikováno v: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2021 Jun 22; Vol. 34 (9), pp. 1185-1189. Date of Electronic Publication: 2021 Jun 22 (Print Publication: 2021).

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