A5002403405- Mitochondrial Function and Pathology
- Vitamin D Research Studies
- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Neurological and metabolic disorders
- Sulfur Compounds in Biology
- Erythrocyte Function and Pathophysiology
- Infectious Encephalopathies and Encephalitis
- Reproductive Biology and Fertility
- Child Nutrition and Feeding Issues
- Ovarian function and disorders
- Cardiac Valve Diseases and Treatments
- Studies on Chitinases and Chitosanases
- Pineapple and bromelain studies
- CRISPR and Genetic Engineering
- Congenital Heart Disease Studies
- Cardiac Structural Anomalies and Repair
- Dermatoglyphics and Human Traits
- Diet and metabolism studies
- Epilepsy research and treatment
- Pancreatic function and diabetes
- Autism Spectrum Disorder Research
- Growth Hormone and Insulin-like Growth Factors
- Redox biology and oxidative stress
- Cytomegalovirus and herpesvirus research
University of Health Sciences Antigua
2025
Sağlık Bilimleri Üniversitesi
2025
Istanbul University
2017-2023
Bezmiâlem Vakıf Üniversitesi
2021-2022
Istanbul University-Cerrahpaşa
2020
Objective This study aimed to investigate the relationship between autism spectrum disorder (ASD) and vitamin D levels in children adolescents. Methods We measured serum 25-hydroxyvitamin (25-OHD) 1529 patients with ASD aged 3 18 years, without any additional chronic diseases. Levels of 25-OHD were compared according sex, age (<11 or ≥11 years), birth season. Additionally, laboratory parameters (calcium, phosphorus, alkaline phosphatase, 25-OHD) 100 selected those healthy control group....
Obesity is known to affect thyroid function. Recently, waist-height ratio (WHtR) has been considered as a useful marker of subclinical hypothyroidism in obese cases, but its relation with autoimmunity still remains unclear. We evaluated the effect body fat mass, WHtR, and metabolic parameters on autoantibody levels children obesity.This was cross-sectional study carried out an [n=56, male/female (M/F): 29/26] healthy group (n=38, M/F: 19/19). All subjects underwent anthropometric...
Krabbe disease is a rare lysosomal storage disorder with neurodegenerative course that occurs because of the deficiency beta-galactocerebrosidase (GALC) enzyme activity. The genetic basis consists biallelic mutations in GALC gene, but spectrum Turkish population poorly defined. We aimed to present case-series infantile-onset disease, define clinical and molecular findings compare previously reported literature.Six cases, who were referred our clinic between 2015-2019, definite diagnosis...
Mitochondrial encephalomyopathy, lactic acidosis, and recurrent stroke-like episodes (MELAS) syndrome is a rare but one of the most common maternally inherited multisystem disorder.Although patients with MELAS present variable clinical profile, strokelike lesions have been detected in 90% cases, stroke being first presenting symptom 25% cases.However, cases local brain edema requiring decompressive craniectomy has not reported.A 12-year-old male patient was admitted to our pediatric...
Objective: Tay-Sachs disease is a fatal inherited lysosomal storage that mostly has an early infantile onset.We presented case series of disease, describe the clinical and molecular findings, compare genetic spectrum with previously reported mutations from Türkiye. Methods: Patients who were referred to İstanbul University, Faculty Medicine, Department Medical Genetics between January 2016 December 2021 included in this study.The diagnosis was confirmed by determining level serum...
Amaç: Polikistik over sendromu tanısı alan ergen kızların başvurudaki klinik, metabolik ve endokrin bulgularını değerlendirmeyi amaçladık.Gereç-Yöntemler: Ocak 2008-Aralık 2012 tarihleri arasında Rotterdam tanı ölçütlerine göre tanılandırılan 53 olgunun yakınmaları, adet düzenleri, fizik bakı bulguları (antropometrik ölçümler, Ferriman Gallwey skoru, akantozis nigrikans varlığı), bazal/uyarılmış adrenal androjen, açlık glukoz/insülin değerleri, kan yağ lipoprotein düzeyleri, pelvik...