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Akademický článek

A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature.

Autor: Hasturk BA; Department of Pediatrics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Cinar Ç; Department of Medical Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Zubarioglu T; Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Tiryaki-Demir S; University of Health Sciences, Sisli Hamidiye Etfal Training and Research Hospital, Department of Ophthalmology, Istanbul, Turkey., Cansever MS; Department of Medical Services and Techniques, Vocational School of Health Services, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Kiykim E; Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Kalaycı Yigin A; Department of Medical Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Yalcinkaya C; Department of Neurology, Division of Pediatric Neurology, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Aktuglu-Zeybek C; Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey.

Publikováno v: Molecular syndromology [Mol Syndromol] 2024 Jun; Vol. 15 (3), pp. 232-239. Date of Electronic Publication: 2024 Jan 25.

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Akademický článek

Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in Turkey.

Autor: Karaca Sahin M; Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, 34098 Istanbul, Turkey., Aktuglu Zeybek AC; Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, 34098 Istanbul, Turkey., Zubarioglu T; Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, 34098 Istanbul, Turkey., Cansever MS; Division of Medical Laboratory Techniques, Department of Medical Documentation and Techniques, The Vocational School of Health Services, Istanbul University-Cerrahpasa, 34295 Istanbul, Turkey., Kıykım E; Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, 34098 Istanbul, Turkey.

Publikováno v: Nutrients [Nutrients] 2024 May 10; Vol. 16 (10). Date of Electronic Publication: 2024 May 10.

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Akademický článek

Urinary neopterin and biopterin indicate that inflammation has a role in autism spectrum disorder.

Autor: Oge-Enver E; Cerrahpasa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Istanbul, Turkey., Isat E; Cerrahpasa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Istanbul, Turkey., Cansever MS; Department of Medical Services and Techniques, Vocational School of Health Services, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Zubarioglu T; Cerrahpasa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Istanbul, Turkey. tanyel.zubarioglu@iuc.edu.tr., Yilmaz G; Cerrahpasa Medical Faculty, Department of Pediatrics, Istanbul University-Cerrahpasa, Istanbul, Turkey., Cebi MN; Cerrahpasa Medical Faculty, Department of Pediatrics, Istanbul University-Cerrahpasa, Istanbul, Turkey., Aktuglu-Zeybek C; Cerrahpasa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Istanbul, Turkey., Kiykim E; Cerrahpasa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Publikováno v: Metabolic brain disease [Metab Brain Dis] 2023 Dec; Vol. 38 (8), pp. 2645-2651. Date of Electronic Publication: 2023 Sep 09.

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Akademický článek

A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase Deficiency.

Autor: Uygur E; Department of Pediatric Nutrition and Metabolism, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, 34098 Istanbul, Turkey.; Nutrition and Dietetics PhD Programme, Institute of Health Sciences, Acibadem Mehmet Ali Aydınlar University, 34752 Istanbul, Turkey., Aktuglu-Zeybek C; Department of Pediatric Nutrition and Metabolism, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, 34098 Istanbul, Turkey., Aghalarov M; Department of Pediatrics, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, 34098 Istanbul, Turkey., Cansever MS; Division of Medical Laboratory Techniques, Department of Medical Documentation and Techniques, The Vocational School of Health Services, Istanbul University-Cerrahpasa, 34295 Istanbul, Turkey., Kıykım E; Department of Pediatric Nutrition and Metabolism, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, 34098 Istanbul, Turkey., Zubarioglu T; Department of Pediatric Nutrition and Metabolism, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, 34098 Istanbul, Turkey.

Publikováno v: Nutrients [Nutrients] 2023 Jul 11; Vol. 15 (14). Date of Electronic Publication: 2023 Jul 11.

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Akademický článek

Evaluation of dynamic thiol/disulfide homeostasis in hereditary tyrosinemia type 1 patients.

Autor: Aktuglu Zeybek AC; Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey. dracaz@iuc.edu.tr., Kiykim E; Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey., Neselioglu S; Department of Biochemistry, Faculty of Medicine, Yıldırım Beyazıt University, Ankara, Turkey., Iscan HZ; Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey., Zubarioglu T; Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey., Cansever MS; Vocational School of Health Services, Department of Medical Services and Techniques, Istanbul University-Cerrahpasa, Istanbul, Turkey., Erel O; Department of Biochemistry, Faculty of Medicine, Yıldırım Beyazıt University, Ankara, Turkey.

Publikováno v: Pediatric research [Pediatr Res] 2022 Aug; Vol. 92 (2), pp. 474-479. Date of Electronic Publication: 2021 Oct 09.

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Akademický článek

The Impact of Telemedicine for Monitoring and Treatment of Phenylketonuria Patients on Metabolic Outcome During Coronavirus Disease-19 Outbreak.

Autor: Zubarioglu T; Cerrahpasa Medical Faculty, Division of Nutrition and Metabolism, Department of Pediatrics Istanbul University-Cerrahpasa, Istanbul, Turkey., Hopurcuoglu D; Cerrahpasa Medical Faculty, Division of Nutrition and Metabolism, Department of Pediatrics Istanbul University-Cerrahpasa, Istanbul, Turkey., Uygur E; Cerrahpasa Medical Faculty, Division of Nutrition and Metabolism, Department of Pediatrics Istanbul University-Cerrahpasa, Istanbul, Turkey., Ahmadzada S; Cerrahpasa Medical Faculty, Division of Nutrition and Metabolism, Department of Pediatrics Istanbul University-Cerrahpasa, Istanbul, Turkey., Oge-Enver E; Cerrahpasa Medical Faculty, Division of Nutrition and Metabolism, Department of Pediatrics Istanbul University-Cerrahpasa, Istanbul, Turkey., Isat E; Cerrahpasa Medical Faculty, Division of Nutrition and Metabolism, Department of Pediatrics Istanbul University-Cerrahpasa, Istanbul, Turkey., Cansever MS; Division of Medical Laboratory Techniques, Department of Medical Documentation and Techniques, The Vocational School of Health Services, Istanbul University-Cerrahpasa, Istanbul, Turkey., Kiykim E; Cerrahpasa Medical Faculty, Division of Nutrition and Metabolism, Department of Pediatrics Istanbul University-Cerrahpasa, Istanbul, Turkey., Aktuglu-Zeybek C; Cerrahpasa Medical Faculty, Division of Nutrition and Metabolism, Department of Pediatrics Istanbul University-Cerrahpasa, Istanbul, Turkey.

Publikováno v: Telemedicine journal and e-health : the official journal of the American Telemedicine Association [Telemed J E Health] 2022 Feb; Vol. 28 (2), pp. 258-265. Date of Electronic Publication: 2021 Mar 12.

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