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

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Atıf İçin Kopyala

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

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, sa.6, ss.721-728, 2020 (SCI-Expanded)

• 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.