Urea Cycle Disorders in Neonates: Six Case Reports


CELIK K., TEREK D., OLUKMAN O., KAGNICI M., GOZMEN S. K. , SERDAROGLU E., et al.

JOURNAL OF PEDIATRIC RESEARCH, cilt.4, ss.85-89, 2017 (ESCI İndekslerine Giren Dergi)

  • Cilt numarası: 4 Konu: 2
  • Basım Tarihi: 2017
  • Doi Numarası: 10.4274/jpr.52724
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Sayfa Sayısı: ss.85-89

Özet

Urea cycle disorders are a group of diseases associated with hyperammonemia, which causes severe neurological sequelae, seizures and psychomotor retardation. In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases) and argininosuccinic aciduria (two cases) are presented in terms of clinical course and treatment responses.