Publications by authors named "I Okur"
Filicide is the act of a parent killing their own offspring. Previous studies indicate that there are both commonalities and distinctions between filicides committed by mothers and fathers. The main objective of this study was to compare maternal and paternal filicide with a major focus on clinical and sociodemographic features of perpetrators, incident details, and victims.
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- Glycogen storage disease type V is linked to mutations in the muscle glycogen phosphorylase gene and is treated with DL-3-hydroxybutyric acid combined with a modified Atkins diet.
- A 13-year-old girl diagnosed with this disease showed improvements in muscle performance and reduced stiffness in her quadriceps after starting the treatment at age 16.
- The study highlights the potential of DL-3-hydroxybutyric acid as an alternative energy source, suggesting that further research is necessary to confirm these findings and the utility of shear wave elastography in evaluating treatment outcomes.
Background: Hyperphenylalaninemia (HPA) is defined as blood phenylalanine (Phe) levels exceeding the normal values (>120 μmol/L or >2 mg/dL) and is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH). The widespread screening of Phe levels in newborn screening programs has led to a very high number of patients with HPA.
Methods: The samples were collected at various ages, not at the point of diagnosis.