Yazar "Aydin, Halil Ibrahim" için listeleme
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Bi-Allelic Loss-Of-Function OBSCN Variants Predispose Individuals to Severe Recurrent Rhabdomyolysis
Aydin, Halil Ibrahim (2021)Rhabdomyolysis is the acute breakdown of skeletal myofibres in response to an initiating factor, most commonly toxins and over exertion. A variety of genetic disorders predispose to rhabdomyolysis through different pathogenic ... -
Chronic Enteropathy Associated with SLCO2A1 Gene and Hereditary Fructose Intolerance: A Coincidence of Two Rare Diseases
Donger, Utku; Warasnhe, Khaled; Ozcay, Figen; Haskologlu, Zehra Sule; Aydin, Halil Ibrahim; Ceylaner, Serdar (2022)Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a rare disorder characterized by multiple small intestine ulcers. Patients with CEAS typically present with chronic anemia and gastrointestinal bleeding. Besides ... -
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 TRMT5 associated with idiopathic non-cirrhotic portal hypertension and hepatopulmonary syndrome: Case report of two siblings
Warasnhe, Khaled; Ozcay, Figen; Aydin, Halil Ibrahim; Ozgun, Gonca; Ceylaner, Serdar (2022)Non-cirrhotic portal hypertension (NCPH) is a rare clinical entity in children. Familial clusters of idiopathic non-cirrhotic portal hypertension (INCPH) were previously reported in cases with deoxyguanosine kinase (DGOUK) ... -
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) -
Severe isolated sulfide oxidase deficiency with a novel mutation
Ergene, Merit; Yarar, Nuriye; Oncel, Elif Perihan; Sezer, Taner; Cavdarli, Busranur; Ecevit, Ismail Zafer; Aydin, Halil Ibrahim (2021)Background. Isolated sulfite oxidase deficiency (ISOD), caused by mutations in SUOX gene, is an autosomal recessive disease manifesting with early onset seizures, developmental delay, microcephaly, and spasticity. It mimics ... -
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
Aydin, Halil Ibrahim (2022)X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. ...