Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, sa.6, ss.721-728, 2020 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 33 Sayı: 6
- Basım Tarihi: 2020
- Doi Numarası: 10.1515/jpem-2019-0413
- Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
- Sayfa Sayıları: ss.721-728
- Anahtar Kelimeler: genetic diseases, hyperammonemia, inborn errors of metabolism, urea cycle disorders, CALCIUM, GLUTAMINE
- Hacettepe Üniversitesi Adresli: Evet
Özet
Objectives: Urea cycle disorders (UCDs) are rare hereditary diseases. This study was conducted to help identify the characteristics of UCDs in Turkey.