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

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

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.6, pp.721-728, 2020 (SCI-Expanded)

• 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.