Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.6, pp.721-728, 2020 (SCI-Expanded, Scopus)
- 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.