A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation

por Sag, Elif, Cebi, Alper Han, Kaya, Gulay, Karaguzel, Gulay, Cakir, Murat
Publicado 2017

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset

por Karagüzel, Gülay, Polat, Recep, Abul, Mehtap H., Cebi, Alper Han, Orhan, Fazıl
Publicado 2022

Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations

por Cakir, Murat, Yakici, Nalan, Sag, Elif, Kaya, Gulay, Bahadir, Ayşenur, Cebi, Alper Han, Orhan, Fazil
Publicado 2023

Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism

por Burcu, Guven, Bellacchio, Emanuele, Sag, Elif, Cebi, Alper Han, Saygin, Ismail, Bahadir, Aysenur, Yilmaz, Guldal, Corbeddu, Marialuisa, Cakir, Murat, Callea, Francesco
Publicado 2020