All Stories

  1. Nitisinone: a review
  2. Inherited metabolic disorders in Turkish patients with autism spectrum disorders
  3. Lessons from two cases: is Fabry disease the correct diagnosis?
  4. Biotinidase deficiency mimicking primary immune deficiencies
  5. Hereditary tyrosinemia type 1 in Turkey: Twenty year single-center experience
  6. ABSTRACT 724
  7. ABSTRACT 241
  8. ABSTRACT 91
  9. Gut microbiota and diseases
  10. Bitterness of Glucose/Galactose
  11. The effect of low-carbohydrate diet on left ventricular diastolic function in obese children
  12. Determination of NTBC in serum samples from patients with hereditary tyrosinemia type I by capillary electrophoresis☆
  13. Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria
  14. Right Ventricular Subclinical Diastolic Dysfunction in Obese Children: The Effect of Weight Reduction with a Low-Carbohydrate Diet
  15. Tissue Doppler echocardiographic assessment of cardiac function in children with bronchial asthma
  16. Capillary leak syndrome in a 5-month-old infant associated with intractable diarrhoea
  17. Seizures during treatment of Vitamin B12 deficiency