An Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies

por Zübarioğlu, Tanyel, Kıykım, Ertuğrul, Aktuğlu-Zeybek, Çiğdem
Publicado 2023

Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening

por Tin, Oğuzhan, Zübarioğlu, Tanyel, Cansever, Mehmet Şerif, Kıykım, Ertuğrul, Aktuğlu-Zeybek, Çiğdem
Publicado 2023

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

por Uygur, Esma, Aktuglu-Zeybek, Cigdem, Aghalarov, Mirsaid, Cansever, Mehmet Serif, Kıykım, Ertugrul, Zubarioglu, Tanyel
Publicado 2023

Evaluation of plasma carnitine status in patients diagnosed with juvenile idiopathic arthritis

por AKTUĞLU ZEYBEK, Ayşe Ciğdem, KIYKIM, Ertuğrul, BARUT, Kenan, ZÜBARİOĞLU, Tanyel, CANSEVER, Mehmet Şerif, KASAPÇOPUR, Özgür
Publicado 2022

Analysis of Biotinidase Activity in Serum by Digital Imaging Colorimetry Detection

por Destanoğlu, Orhan, Cansever, M. Şerif, İşat, Esra, Zübarioğlu, Tanyel, Aktuğlu Zeybek, A. Çiğdem, Kıykım, Ertuğrul
Publicado 2023

Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias

por Kiykim, Ertugrul, Oguz, Ozge, Duman, Cisem, Zubarioglu, Tanyel, Cansever, Mehmet Serif, Zeybek, Ayse Cigdem Aktuglu
Publicado 2021

Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation

por Zubarioglu, Tanyel, Kiykim, Ertugrul, Zeybek, Cigdem Aktuglu, Cansever, Mehmet Serif, Benbir, Gulcin, Aydin, Ahmet, Yalcinkaya, Cengiz
Publicado 2015

Evaluation of the effect of chenodeoxycholic acid treatment on skeletal system findings in patients with cerebrotendinous xanthomatosis

por Zübarioğlu, Tanyel, Bilen, İnci Pınar, Kıykım, Ertugrul, Doğan, Beyza Belde, Enver, Ece Öge, Cansever, Mehmet Şerif, Zeybek, Ayşe Çiğdem Aktuğlu
Publicado 2019

Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria

por Zübarioğlu, Tanyel, Yalçınkaya, Cengiz, Oruç, Çiğdem, Kıykım, Ertuğrul, Cansever, Mehmet Şerif, Gezdirici, Alper, Yeşil, Gözde, Enver, Ece Öge, Zeybek, Çiğdem Aktuğlu
Publicado 2020

BNT162b2 COVID-19 vaccination elicited protective robust immune responses in pediatric patients with inborn errors of metabolism

por Zubarioglu, Tanyel, Dinc, Harika Oyku, Hopurcuoglu, Duhan, Gulmez, Ruveyda, Uygur, Esma, Yilmaz, Gizem, Ahmadzada, Saffa, Uzunyayla-Inci, Gozde, Oge-Enver, Ece, Kiykim, Ertugrul, Kocazeybek, Bekir, Aktuglu-Zeybek, Cigdem
Publicado 2023

Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study

por Stelten, Bianca M. L., Dotti, Maria Teresa, Verrips, Aad, Elibol, Bülent, Falik-Zaccai, Tzipora C., Hanman, Kate, Mignarri, Andrea, Sithole, Belina, Steiner, Robert D., Verma, Surabhi, Yahalom, Gilad, Zubarioglu, Tanyel, Mochel, Fanny, Federico, Antonio
Publicado 2021

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

por Seker Yilmaz, Berna, Baruteau, Julien, Arslan, Nur, Aydin, Halil Ibrahim, Barth, Magalie, Bozaci, Ayse Ergul, Brassier, Anais, Canda, Ebru, Cano, Aline, Chronopoulou, Efstathia, Connolly, Grainne M., Damaj, Lena, Dawson, Charlotte, Dobbelaere, Dries, Douillard, Claire, Eminoglu, Fatma Tuba, Erdol, Sahin, Ersoy, Melike, Fang, Sherry, Feillet, François, Gokcay, Gulden, Goksoy, Emine, Gorce, Magali, Inci, Asli, Kadioglu, Banu, Kardas, Fatih, Kasapkara, Cigdem Seher, Kilic Yildirim, Gonca, Kor, Deniz, Kose, Melis, Marelli, Cecilia, Mundy, Helen, O’Sullivan, Siobhan, Ozturk Hismi, Burcu, Ramachandran, Radha, Roubertie, Agathe, Sanlilar, Mehtap, Schiff, Manuel, Sreekantam, Srividya, Stepien, Karolina M., Uzun Unal, Ozlem, Yildiz, Yilmaz, Zubarioglu, Tanyel, Gissen, Paul
Publicado 2022