Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa

por Kumru Akin, Burcu, Ozturk Hismi, Burcu, Daly, Anne
Publicado 2022

Mucopolysaccharidosis type 4 (Morquio syndrome): A case report

por Akçay, Seçkin, Akagündüz, Fırat, Ölmez, Osman, Öztürk Hişmi, Burcu, Gözü, Hülya
Publicado 2023

Neuropsychological attributes of urea cycle disorders: A systematic review of the literature

por Waisbren, Susan E., Stefanatos, Arianna K., Kok, Teresa M. Y., Ozturk‐Hismi, Burcu
Publicado 2019

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

por Güven, Serçin, Gökçe, İbrahim, Alavanda, Ceren, Öztürk Hişmi, Burcu, Çiçek, Neslihan, Bodur Demirci, Ece, Sak, Mehtap, Yıldız, Nurdan, Ata, Pınar, Alpay, Harika
Publicado 2022

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