A5071055990- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Amino Acid Enzymes and Metabolism
- Biochemical and Molecular Research
- Diet and metabolism studies
- Mitochondrial Function and Pathology
- Glycogen Storage Diseases and Myoclonus
- Virus-based gene therapy research
- Cellular transport and secretion
- Folate and B Vitamins Research
- Neonatal Health and Biochemistry
- Vitamin D Research Studies
- Glycosylation and Glycoproteins Research
- RNA regulation and disease
- CRISPR and Genetic Engineering
- Carbohydrate Chemistry and Synthesis
- Child Nutrition and Feeding Issues
- Genomics and Rare Diseases
- Metabolomics and Mass Spectrometry Studies
- Studies on Chitinases and Chitosanases
- Antifungal resistance and susceptibility
- Biotin and Related Studies
- Biomedical Research and Pathophysiology
- Trypanosoma species research and implications
- Cytomegalovirus and herpesvirus research
University College London
2020-2024
Great Ormond Street Hospital
2020-2024
Genomics England
2021-2023
Mersin Üniversitesi
2011-2021
Genomics (United Kingdom)
2021
Sağlık Bilimleri Üniversitesi
2020
Massachusetts Eye Research and Surgery Institute
2020
Cukurova University
1991-2019
City Hospital
2017-2019
Kasımpaşa Asker Hastanesi
2018
X-linked inherited ornithine transcarbamylase deficiency (OTCD) is the most common disorder affecting liver-based urea cycle, a pathway enabling detoxification of nitrogen waste and endogenous arginine biosynthesis. Patients develop acute hyperammonemia leading to neurological sequelae or death despite best-accepted therapy based on ammonia scavengers protein-restricted diet. Liver transplantation curative but associated with procedure-related complications lifelong immunosuppression....
The lowering effect of physical exercise on intraocular pressure (IOP) has been reported both in healthy people and those with glaucoma, but a comparison the isometric isokinetic exercises IOP not conducted any study. Our aims were to investigate relationship between intensity IOP, whether significant difference existed exercises. Sixty-seven patients an age range 23–40 who had no ocular disease randomly divided into two groups. While 31 first group, group A, performed Cybex 6000...
Abstract Background: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms can be detected newborn screening. Newborn screening for BD was implemented in Turkey at the end 2008. Methods: In total, 203 patients who were identified among infants later confirmed to have through measurement serum biotinidase activity. We also performed BTD mutation analysis characterize genetic profile. Results: Twenty-seven mutations...
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...
Ornithine transcarbamylase deficiency (OTCD) is an X-linked defect of ureagenesis and the most common urea cycle disorder. Patients present with hyperammonemia causing neurological symptoms, which can lead to coma death. Liver transplantation (LT) only curative therapy, but has several limitations including organ shortage, significant morbidity requirement lifelong immunosuppression. This study aims identify characteristics outcomes patients who underwent LT for OTCD. We conducted a...
This study aimed to examine the incidence, epidemiology, and clinical characteristics of symptomatic asymptomatic candidiasis in a pediatric intensive care unit (PICU), determine risk factors associated with candidiasis. retrospective included 67 patients from 7-bed PICU tertiary hospital that had Candida-positive cultures between April 2007 July 2009. Demographic patients, Candida isolates, antimicrobial antifungal treatments, previously identified for were recorded, compared. In all, 36...
Şeker-Yılmaz B, Kör D, Bulut FD, Yüksel Karabay-Bayazıt A, Topaloğlu AK, Ceylaner G, Önenli-Mungan N. Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations. Turk J Pediatr 2017; 59: 434-441. syndrome (FBS) is a rare, autosomal recessive disorder of carbohydrate metabolism caused by defects the facilitative transporter 2 (GLUT2 or SLC2A2) gene. Prominent findings are failure to thrive, renal tubular acidosis, hypoglycemia and postprandial hyperglycemia...
Abstract 3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency is an autosomal recessively inherited disease of leucine catabolism. It the most commonly observed organic acidemia where tandem mass spectrometry can be performed in newborn screening. The clinical phenotypes may differ from neurological involvement newborns to asymptomatic adults. Diagnosis made by increased 3-hydroxyisovaleric acid blood and 3-methylcrotonylglycine urine. We would like present interesting case a 32-year-old...
Kör D, Şeker-Yılmaz B, Bulut FD, Kılavuz S, Öktem M, Ceylaner Yıldızdaş Önenli-Mungan N. Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations. Turk J Pediatr 2019; 61: 330-336. (PA) is an inherited metabolic disease caused by the deficiency one four biotin-dependent enzymes propionyl-CoA carboxylase (PCC), and characterized coma death in unrecognized patients, additionally late diagnosis leads to severe developmental delay neurological sequels. Manifestations...
Phenylketonuria (PKU) often requires a lifelong phenylalanine (Phe)-restricted diet. Introduction of 6R-tetrahydrobiopterin (BH4) has made huge difference in the diets patients with PKU. BH4 is co-factor enzyme hydroxylase (PAH) and improves PAH activity and, thus, Phe tolerance A limited number published studies suggest pharmacodynamic profile more suitable to be administered divided daily doses.After 72-h loading test, sapropterin was initiated 50 responsive patients. This case-control...
Nonketotic hyperglycinemia (OMIM no. 605899) is an autosomal recessively inherited glycine encephalopathy, caused by a deficiency in the mitochondrial cleavage system. Here we report 2 neonates who were admitted to hospital with complaints of respiratory failure and myoclonic seizures elevated cerebrospinal fluid/plasma ratio diagnosed as nonketotic hyperglycinemia. We these cases novel homozygous mutations; missense mutation c.593A>T (p.D198 V) decarboxylase gene splicing c.339G>A (Q113Q)...
Abstract Systemic primary carnitine deficiency is an autosomal recessive disorder caused by the of transporter. Main features are cardiomyopathy, myopathy and hypoglycemic encephalopathy. We report a Turkish case with novel
We have conducted this study for the purposes of demonstrating spectrum mutations and identifying their effects on phenotype, with a particular focus clinical course, prognosis response to treatment. A total 25 patients from 20 families, who been treated followed up after being diagnosed cystinosis. Nine were identified homozygous c.451A > G, 7 c.681G A, 6 c.834_842del, 2 c.18_21delGACT 1 patient compound heterozygous G/ c.1015G A. The c.834_842del mutation in six four families has not...