A5041834512- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Amino Acid Enzymes and Metabolism
- Biochemical and Molecular Research
- Renal function and acid-base balance
- Biological Research and Disease Studies
- Trypanosoma species research and implications
Memorial Ankara Hospital
2023
Sağlık Bilimleri Üniversitesi
2023
Introduction: Inherited glycosylphosphatidylinositol biosynthesis defect is considered a subset of the congenital glycosylation disorder that result from mutations in genes encoding proteins participating and modification. Glycosylphosphatidylinositol anchor play important roles numerous cellular processes including neurogenesis, cell adhesion, immune response signalling. Hyperphosphatasia with mental retardation syndrome-3 one defects, characterized by moderate to severe intellectual...
Objective: Organic acidemias are intoxication-type inborn errors of the metabolism with multiple organ involvement. Patients organic acidemia usually present in neonatal or infantile period high anion gap metabolic acidosis and hyperammonemia. The study investigates presence congenital heart defects secondary diseases patients acidemia. Material Methods: Included were 31 whom 14 diagnosed methylmalonic (MMA), 11 propionic six isovaleric cardiac findings all included evaluated. Results: Of...
Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder caused by loss of function mutations in the solute carrier family 22 member 5 (