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, vol.33, no.6, pp.721-728, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 6
  • Publication Date: 2020
  • Doi Number: 10.1515/jpem-2019-0413
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.721-728
  • Keywords: genetic diseases, hyperammonemia, inborn errors of metabolism, urea cycle disorders, CALCIUM, GLUTAMINE
  • Hacettepe University Affiliated: Yes

Abstract

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