Výsledky vyhledávání - "Öztürk Hişmi, B."

Akademický článek

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Autor: Zubarioglu T; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Division of Pediatric Nutrition and Metabolism, İstanbul, Turkey. Electronic address: tanyel.zubarioglu@iuc.edu.tr., Kıykım E; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Division of Pediatric Nutrition and Metabolism, İstanbul, Turkey., Köse E; Ankara University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey; Ankara University Rare Diseases Application and Research Center, Ankara, Turkey., Eminoğlu FT; Ankara University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey; Ankara University Rare Diseases Application and Research Center, Ankara, Turkey., Teke Kısa P; Dokuz Eylul University Medical Faculty, Division of Pediatric Nutrition and Metabolism, Izmir, Turkey., Balcı MC; Istanbul University, Istanbul Medical Faculty Children's Hospital, Division of Nutrition and Metabolism, Istanbul, Turkey., Özer I; Ondokuz Mayıs University, Faculty of Medicine, Department of Pediatric Metabolism, Samsun, Turkey; Kafkas University, Division of Pediatric Nutrition and Metabolism, Kars, Turkey., İnci A; Gazi University School of Medicine, Division of Pediatric Nutrition and Metabolism, Ankara, Turkey., Çilesiz K; Gazi University School of Medicine, Division of Pediatric Nutrition and Metabolism, Ankara, Turkey., Canda E; Ege University Medical Faculty, Division of Pediatric Nutrition and Metabolism, İzmir, Turkey., Yazıcı H; Ege University Medical Faculty, Division of Pediatric Nutrition and Metabolism, İzmir, Turkey., Öztürk-Hişmi B; Marmara University School of Medicine, Division of Pediatric Metabolic Disorders, İstanbul, Turkey., Bulut FD; Cukurova University Medical Faculty, Division of Pediatric Metabolism and Nutrition, Adana, Turkey., Dorum S; Health Sciences University, Bursa Yuksek Ihtisas Training and Research Hospital, Division of Pediatric Nutrition and Metabolism, Bursa, Turkey., Akgun A; Firat University, School of Medicine, Department of Pediatrics, Division of Pediatric Metabolic Diseases, Elazığ, Turkey., Yalçın-Çakmaklı G; Hacettepe University Faculty of Medicine, Department of Neurology, Ankara, Turkey., Kılıç-Yıldırım G; Eskisehir Osmangazi University, Faculty of Medicine, Pediatric Nutrition and Metabolism Unit, Eskişehir, Turkey., Soyuçen E; Akdeniz University Faculty of Medicine, Department of Pediatrics, Division of Inherited Pediatric Metabolic Diseases, Antalya, Turkey., Akçalı A; Gaziantep University Faculty of Medicine, Department of Neurology, Gaziantep, Turkey., Güneş D; Bağcılar Training and Research Hospital, Division of Inborn Metabolic Disease, İstanbul, Turkey., Durmuş A; Kanuni Training and Research Hospital, Division of Pediatric Metabolism, Trabzon, Turkey., Gündüz A; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Department of Neurology, İstanbul, Turkey., Kasapkara ÇS; Ankara Yıldırım Beyazıt University, Ankara Bilkent City Hospital, Department of Pediatric Metabolism, Ankara, Turkey., Göksoy E; Adnan Menderes University Medical Faculty, Division of Pediatric Metabolism, Aydın, Turkey., Akar HT; Ankara Etlik City Hospital, Pediatric Metabolic Diseases Unit, Ankara, Turkey., Ersoy M; Health Sciences University, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, Department of Pediatrics, Division of Pediatric Metabolic Diseases, İstanbul, Turkey., Erdöl Ş; Bursa Uludag University Faculty of Medicine, Department of Pediatrics, Division of Metabolism, Bursa, Turkey., Yıldız Y; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Ankara, Turkey., Hanağası HA; Istanbul Faculty of Medicine, Department of Neurology, İstanbul, Turkey., Arslan N; Dokuz Eylul University Medical Faculty, Division of Pediatric Nutrition and Metabolism, Izmir, Turkey., Aktuğlu-Zeybek Ç; İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Division of Pediatric Nutrition and Metabolism, İstanbul, Turkey.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108493. Date of Electronic Publication: 2024 May 13.

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Report

Management of acute metabolic crisis in TANGO2 deficiency: a case report.

Autor: Yılmaz-Gümüş E; Department of Pediatrics, Division of Pediatric Metabolic Diseases, Marmara University School of Medicine, Istanbul, Türkiye., Elcioglu NH; Department of Pediatrics, Division of Pediatric Genetics, Marmara University School of Medicine, Istanbul, Türkiye.; Eastern Mediterranean University School of Medicine, Famagusta, Türkiye., Genç E; Department of Pediatrics, Division of Pediatric Metabolic Diseases, Marmara University School of Medicine, Istanbul, Türkiye., Arıcı Ş; Department of Pediatrics, Division of Pediatric Cardiology, Marmara University School of Medicine, Istanbul, Türkiye., Öztürk G; Department of Pediatrics, Division of Pediatric Neurology, Marmara University School of Medicine, Istanbul, Türkiye., Yapıcı Ö; Department of Pediatric Radiology, Marmara University School of Medicine, Istanbul, Türkiye., Akalın F; Department of Pediatrics, Division of Pediatric Cardiology, Marmara University School of Medicine, Istanbul, Türkiye., Öztürk-Hişmi B; Department of Pediatrics, Division of Pediatric Metabolic Diseases, Marmara University School of Medicine, Istanbul, Türkiye.

Publikováno v: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2023 Jun 30; Vol. 36 (10), pp. 983-987. Date of Electronic Publication: 2023 Jun 30 (Print Publication: 2023).

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Akademický článek

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Akademický článek

Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia.

Autor: Güven S; Division of Pediatric Nephrology, Department of Pediatrics, Marmara University Medical Faculty, İstanbul, Turkey., Gökçe İ; Division of Pediatric Nephrology, Department of Pediatrics, Marmara University Medical Faculty, İstanbul, Turkey., Alavanda C; Department of Medical Genetics, Marmara University Medical Faculty, İstanbul, Turkey., Öztürk Hişmi B; Division of Pediatric Metabolic Disorders and Nutrition, Department of Pediatrics, Marmara University Medical Faculty, İstanbul, Turkey., Çiçek N; Division of Pediatric Nephrology, Department of Pediatrics, Marmara University Medical Faculty, İstanbul, Turkey., Bodur Demirci E; Division of Pediatric Nephrology, Department of Pediatrics, Marmara University Medical Faculty, İstanbul, Turkey., Sak M; Division of Pediatric Nephrology, Department of Pediatrics, Marmara University Medical Faculty, İstanbul, Turkey., Yıldız N; Division of Pediatric Nephrology, Department of Pediatrics, Marmara University Medical Faculty, İstanbul, Turkey., Ata P; Department of Medical Genetics, Marmara University Medical Faculty, İstanbul, Turkey., Alpay H; Division of Pediatric Nephrology, Department of Pediatrics, Marmara University Medical Faculty, İstanbul, Turkey.

Publikováno v: Turkish archives of pediatrics [Turk Arch Pediatr] 2022 Jul; Vol. 57 (4), pp. 432-440.

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