Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations


Nakip O. S. , YILDIZ Y. , TOKATLI A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, ss.721-728, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 33 Konu: 6
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1515/jpem-2019-0413
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.721-728

Özet

Objectives: Urea cycle disorders (UCDs) are rare hereditary diseases. This study was conducted to help identify the characteristics of UCDs in Turkey.