Yazar "0000-0001-7994-4394" için Tıp Fakültesi / Faculty of Medicine listeleme
-
Coexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation
Ayanoglu, Muge; Korgali, Elif; Sezer, Taner; Aydin, Halil Ibrahim; Sonmez, Fatma Mujgan (2020)We describe the first child with guanidinoacetate methyltransferase (GAMT) deficiency who developed neuroleptic malignant syndrome (NMS) after the treatment of risperidone without elevated creatine kinase (CK) levels. The ... -
Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder
Aydin, Halil Ibrahim (2018)Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism. Two brothers with autism spectrum disorder were diagnosed with CTD at the ages of 17 and 12 years. Both were found to have a ... -
Genetic Studies in Autism: Correspondence
Aydin, Halil Ibrahim (2017) -
A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism
Aydin, Halil Ibrahim; Sonmez, Fatma Mujgan (2019)Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder of creatine biosynthesis. Here, we report 9 and 10-year-old cousins with GAMT deficiency caused by a novel mutation who both ... -
Pediatric Liver Transplantation Indications and Outcomes in Glycogen Storage Disease: A Single Center Experience
Ozcay, Figen; Kar, Hazel Delal Dara; Warasnhe, Khaled; Aydin, Halil Ibrahim; Akdur, Aydincan; Haberal, Mehmet (2022) -
The Relationship between Daily Fructose Consumption and Oxidized Low-Density Lipoprotein and Low-Density Lipoprotein Particle Size in Children with Obesity
Gungor, Ali; Balamtekin, Necati; Özkececi, Coskun Firat; Aydin, Halil İbrahim (2021)Purpose: Obesity has become a very significant health problem in childhood. Fructose taken in an uncontrolled manner and consumed in excessive amounts is rapidly metabolized in the body and gets converted into fatty acids. ...