A5002319984- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Neonatal Health and Biochemistry
- Diet and metabolism studies
- Biochemical and Molecular Research
- Enzyme Production and Characterization
- Pathogenesis and Treatment of Hiccups
- Medical Imaging and Pathology Studies
- Viral Infectious Diseases and Gene Expression in Insects
- Genomics and Rare Diseases
- Amino Acid Enzymes and Metabolism
- Glioma Diagnosis and Treatment
- Gastrointestinal motility and disorders
- Calcium signaling and nucleotide metabolism
- Glycosylation and Glycoproteins Research
- Lipid metabolism and disorders
- Genetics and Neurodevelopmental Disorders
- Neonatal and fetal brain pathology
- Genetic factors in colorectal cancer
- Immune Response and Inflammation
- Shoulder Injury and Treatment
- Epilepsy research and treatment
- Trypanosoma species research and implications
- Blood disorders and treatments
Gazi University
2021-2025
Hacettepe University
2025
Gazi Hastanesi
2021-2022
Akdeniz University
2013
Pulmonary arterial hypertension associated with congenital heart disease (APAH-CHD) is a severely progressive condition complex pathogenesis. The aim of this study was to evaluate the contribution genetic variants development PAH in patients APAH-CHD. Fifteen children and twenty-seven adults diagnosed APAH-CHD were enrolled. Targeted next-generation sequencing performed on PAH-associated genes (ABCC8, ACVRL1, AQP1, ATP13A3, BMPR2, CAV1, GDF2, GGCX, EIF2AK4, ENG, KCNK3, KDR, KLK1, SMAD1,...
Inborn errors of metabolism (IEMs) are a group genetic diseases that occur due to the either deficiency an enzyme involved in metabolic/biochemical pathway or other disturbances metabolic including transport protein activator deficiencies, cofactor organelle biogenesis, maturation trafficking problems. These disorders collectively significant their substantial impact on both well-being and survival affected individuals. In quest for effective treatments, replacement therapy (ERT) has emerged...
Abstract In this study, the aim was to examine patients with inborn errors of metabolism (IEM) who presented only autism, without any other findings, suggest neurological and genetic disorders. To investigate IEM, data hospital records 247 were referred from pediatric psychiatric outpatient clinics due further evaluation autism spectrum disorders (ASD) examined. Among them, 237 evaluated for IEM leading ASDs. Organic acidemias, phenylketonuria, tetrahydrobiopterin neutrotransmitter...
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. We audited diagnosis and management of OTCD, using an online 12-question-survey that was sent 75 metabolic centres in Turkey, France UK. Thirty-nine responded 495 patients were reported total. A total 208 French reported, including 71 (34%) males, 86 (41%) symptomatic 51...
Hyperphenylalaninemia (HPA) is defined as blood phenylalanine (Phe) levels exceeding the normal values (>120 μmol/L or >2 mg/dL) and caused by a deficiency in enzyme hydroxylase (PAH). The widespread screening of Phe newborn programs has led to very high number patients with HPA.
The ketogenic diet (KD) is a low-carbohydrate, high-fat that has been used as an effective nonpharmacological treatment in many neurological and metabolic disorders for long time. effectiveness of the KD revealed mitochondrial disorders, mainly pyruvate dehydrogenase deficiency.A 4-year-old girl who was diagnosed with F-box leucine-rich repeat protein 4 (FBXL4) gene mutation hospitalized sepsis. She first given standard parenteral nutrition (PN) because gastrointestinal problems. During...
Aim: Coronavirus disease 2019 (COVID-19) is a severe acute respiratory syndrome with high mortality rate and has been labeled global pandemic in March 2020. Gaucher Disease (GD) one of the rare inherited lysosomal storage diseases (LSDs). We aimed to call attention frequency, susceptibility COVID-19 infection, factors that prevent this infection patients GD as compared other LSDs. Material Methods: The study was conducted retrospectively between September December Participants were divided...
AMAÇ: Metabolik sendrom, obezite, yüksek düzeyde düşük yoğunluklu kolesterol düzeyi (LDL), trigliserit (TG) ve insuline duyarlılık ile karakterize olan günümüzde sıklığı giderek artan bir bozukluktur. sendromun etiyopatogenezinde hem genetik de çevresel nedenlerin rol oynadığı bilinmektedir. Özellikle mitokondriyal DNA’da oluşan m.16189T>C değişikliğinin bu hastalıkla ilişkili olduğu gösterilmiştir. Bu çalışmada hastalık şüphesi başvuran hastalarda saptanan klinik laboratuvar...
Objective
 There is no applicable and easy procedure to screen
 oxidative stress in mucopolysaccaridosis (MPS)
 patients. The aim herein was show the antioxidative
 properties of free carnitine (FC) propionylcarnitine
 (PC) with respect markers MPS and
 use a simple method patient follow-up.
 Material Methods
 FC PC were studied as an marker using tandem mass spectroscopy malondialdehyde (MDA) oxidative
 27 patients 24 healthy volunteers.
...
Giriş ve Amaç: Siklik kusma sendromu (SKS) sık görülen gastrointestinal fonksiyonel bir düzensizliktir. Gastrointestinal düzensizliklerin mitokondriyal polimorfizmlerle ilişkili olduğu gösterilmiştir. Bu çalışmada, m.3010G>A değişikliğini taşıyan hastalarda klinik bulguların incelenmesi amaçlanmıştır. 
 Gereç Yöntemler: Kliniğimize hastalık şüphesi ile gelen 55 hastadan, periferik kandan DNA izolasyonu yapılmıştır. Yeni nesil dizileme tüm genom dizi analizi yapılarak değişikliği olan...