A5058228527- Metabolism and Genetic Disorders
- Ocular Diseases and Behçet’s Syndrome
- Lysosomal Storage Disorders Research
- Otitis Media and Relapsing Polychondritis
- Vasculitis and related conditions
- Amino Acid Enzymes and Metabolism
- Retinal and Optic Conditions
- Diet and metabolism studies
- Glycogen Storage Diseases and Myoclonus
- Mitochondrial Function and Pathology
- Systemic Lupus Erythematosus Research
- Biomedical Research and Pathophysiology
- Biochemical and Molecular Research
- Neurological Complications and Syndromes
- Glycosylation and Glycoproteins Research
- Trypanosoma species research and implications
- Autoimmune and Inflammatory Disorders Research
- Bone health and treatments
- Folate and B Vitamins Research
- Infectious Diseases and Mycology
- Alkaline Phosphatase Research Studies
- Melanoma and MAPK Pathways
- Childhood Cancer Survivors' Quality of Life
- Autoimmune Neurological Disorders and Treatments
- Renal Diseases and Glomerulopathies
Ege University
2017-2025
University of Michigan
2023
Ege Üniversitesi Tıp Fakültesi Hastanesi
2022
Sociedad Española de Endocrinología y Nutrición
2022
Istanbul University-Cerrahpaşa
2017-2021
Western University
2021
Istanbul University
2017
Yeditepe University Hospital
2017
Erzurum Regional Training and Research Hospital
2014
St Thomas' Hospital
1993
Journal Article EVALUATION OF DIAGNOSTIC ('CLASSIFICATION') CRITERIA IN BEHÇET'S DISEASE—TOWARDS INTERNATIONALLY AGREED Get access THE INTERNATIONAL STUDY GROUP FOR DISEASE, DISEASE Search for other works by this author on: Oxford Academic PubMed Google Scholar B. Wechsler, Wechsler France F. Davatchi, Davatchi Iran Y. Mizushima, Mizushima Japan M. Hamza, Hamza Tunisia N. Dilsen, Dilsen Turkey E. Kansu, Kansu H. yazici, yazici C.G. Barnes, Barnes UK Correspondence to Dr. C. G. Department of...
Abstract Background Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling. It classified into two levels based on the biotinidase enzyme activity: partial (10%–30% activity) and profound (0%–10% activity). The aims this study were to evaluate our patients with BD, identify spectrum ( BTD ) gene mutations in Turkish determine clinical laboratory findings their follow-up period. Methods A total 259 who diagnosed BD enrolled study. One hundred...
Abstract Background/Objectives Glycogen storage diseases type VI (GSD-VI) and IX (GSD-IX) are rare inherited metabolic disorders caused by enzyme deficiencies that disrupt glycogen metabolism. The aim of this study was to analyze the clinical features, nutritional management geno-phenotyping nutrition in a cohort patients with GSD-VI GSD-IX. Subjects/Methods A retrospective conducted 16 Demographic characteristics, laboratory findings, treatment outcomes were collected analyzed. Results mean...
Abstract Long-chain fatty acid oxidation disorders (LC-FAOD) are a rare metabolic condition that results in impaired utilization, leading to crises, hospitalization, and reduced quality of life. Despite dietary management, many patients experience ongoing complications. Triheptanoin, seven-carbon triglyceride, has emerged as therapeutic alternative by providing an energy source supporting stability. This study aims evaluate the clinical outcomes LC-FAOD receiving triheptanoin therapy...
No abstract available.
Abstract Objectives The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow‐up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited defects. Methods We analyzed data of suspected BH4 deficiency. All were diagnosed at Ege University Faculty Medicine Izmir, Turkey comprised collected from 2006 2019. diagnostic laboratory examinations included blood phenylalanine urinary or plasma pterins, dihydropteridine...
Galactosemia is an inherited disease that occurs as a result of insufficient or no synthesis some enzymes (GALT, GALK, and GALE) in galactose metabolism. Failure to make early diagnosis, especially newborns, can lead severe clinical even fatal consequences. The aim this study develop biosensor for measuring free plasma. immobilization components the developed are screen printed carbon electrode (SCPE), Prussian blue (PB), chitosan (CHIT), Nafion (NAF), gold nanoparticle (GNP), oxidase...
Abstract Galactose mutarotase (GALM) deficiency is an inherited metabolic disease caused by the of first enzyme in Leloir pathway. GALM was reported 2018. To date, eight cases have been reported. We are presenting two siblings with deficiency; one patient presented cataracts and her brother asymptomatic. evaluated case due to a cataract at 3 months old. She had elevated galactose galactose‐1‐phosphate normal uridylyltransferase (GALT) activity. Genetic analysis other laboratory clinical...
Dietary lipid manipulation has recently been proposed for managing glycogen storage disease (GSD) type IIIa. This study aimed to evaluate the myopathic, cardiac, and metabolic status, physical activity, growth, dietary compliance of a personalized diet high in protein fat 24 months. Of 31 patients with IIIa GSD, 12 met inclusion criteria. these, 10 (mean age 11.2 ± 7.4 years) completed study. Patients were prescribed high-protein, high-fat diet, comprising 3.0-3.5 g/kg/day 3.0-4.5 fat,...
Abstract Chanarin‐Dorfman syndrome (CDS) is a multisystem autosomal recessive disorder due to variants of the ABHD5 gene, characterized by lipid vacuoles in liver and leukocytes, possible involvement eyes, ears, skeletal muscle, central nervous system. CDS may present with skin changes, most commonly congenital non‐ bullous ichthyosiform erythroderma, however erythrokeratoderma‐like findings have been rarely reported patients. Herein, we report clinical, histopathological genetic four...
Elevated levels of cholesterol in the bloodstream, also referred to as hypercholesterolemia, pose a significant risk for onset cardiovascular and cerebrovascular diseases. Oxysterols, cholesterol-derived oxidized compounds that form enzymatically or non-enzymatically, contribute development atherosclerosis coronary artery disease. This study aimed examine critical oxysterol children adolescents with hypercholesterolemia explore correlation between these levels, oxidative stress, progression....
Abstract Background Niemann–Pick type C (NPC) disease is a lysosomal storage with visceral organ involvement and neurological psychiatric symptoms. This study presents the clinical laboratory findings of NPC cases involving three novel variants. Methods The were reviewed retrospectively between February 2006 December 2022. Results There nine females five males. median age diagnosis patients was 5 months (range: 1 month to 38 years). phenotypes early infantile ( n = 7), late 4), juvenile 2),...
Aromatic L-amino acid decarboxylase (AADC) deficiency is a disease in which neurological findings are dominant due to deficiencies neurotransmitter synthesis. Hypoglycemia caused by autonomic dysfunction one of the symptoms that may be encountered. Here we report case mild AADC presenting with hypoglycemia without any signs. A 4-year-old girl presented recurrent hypoglycemia. Her growth and development were normal. Plasma insulin cortisol values normal sample at time C8:1-Carnitine elevation...
Abstract Background Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder due to mutations in the TYMP gene. Clinical findings are characterized by neurologic manifestations and severe gastrointestinal dysfunction. The syndrome usually fatal, most effective treatment appears be hematopoietic stem cell transplantation (HSCT). Procedure In this retrospective study, we evaluated HSCT that was performed using reduced toxicity myeloablative...
ABS TRACTAim: The purpose of our study is to submit the demographic, phenotypic and age at diagnosis characteristics children with GM2 gangliosidosis.Materials Methods: Patients gangliosidosis who were referred Ege University Faculty Medicine, Department Pediatrics, Division Pediatric Nutrition Metabolism between January 2004 December 2016, included in this study.Diagnosis was confirmed by determining level serum β-hexosaminidase activity genetic mutation analysis.The demographic clinical...
Rhabdomyolysis is a clinical emergency that can result in life-threatening complications. The etiology for rhabdomyolysis broad. Infecitons are the most common cause pediatric patients. Underlying inherited metabolic diseases also of and often have diagnostic challenge, considering their marked heterogeneity comparative rarity. purpose this review to summarize essential characteristics clues inborn errors metabolism associated with rhabdomyolysis.