Case Report

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages
  • Asburçe Olgaç
  • Leyla Tümer
  • Serdar Ceylaner
  • Gürsel Biberoğlu
  • Alev Hasanoğlu
J Pediatr Res 2018; 5: 47-50 DOI: 10.4274/jpr.55477

Original Article

Evaluation of the Neurodevelopmental Status for Urea Cycle Disorders: Based on Clinical Experience
  • Ayşe Ergül Bozacı
  • Emine Göksoy
  • Aysel Tekmenuray Ünal
  • Hatice Mutlu Albayrak
  • İbrahim Taş
  • Berat Kanar
  • Mehmet Nuri Özbek
  • Melis Köse
J Pediatr Res 2023; 10: 182-194 DOI: 10.4274/jpr.galenos.2023.96992