English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Zendy Open

Presents the pdf analysis as premium feature

PDF Analysis

Insights

Presents the summarisation as premium feature

Summarisation

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the zaia usage as premium feature

ZAIA

Zendy Tools

Zendy Plus

Presents the access of premium content as premium feature

Premium Content

Objective: The urea cycle is a pathway by which urea is produced from ammonia primarily in the liver. Urea cycle disorders are inborn errors of this metabolic pathway. Decreased excretion of nitrogen in the urea cycle due to deficiencies of carbamoylphosphate synthase (CPS-I), ornithine transcarbamylase (OTC), argininosuccinate synthase (ASS), argininosuccinate lyase (ASL), arginase (ARG) and N-acetylglutamate synthase (NAGS) causes hyperammonemia. Frequently seen sign and symptoms are nausea-vomiting, loss of appetite, failure to thrive, hyperammonemia, liver failure, fatty liver, hepatomegaly, convulsions, stupor, coma and mental-motor retardation. Material and Methods: In this study, the clinical data, mutations, and prognosis of 20 patients with UCD from the south part of Turkey were evaluated retrospectively. 1Çukurova Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Çocuk Metabolizma Bilim Dalı, Adana, Türkiye 2Mersin Şehir Hastanesi, Çocuk Sağlığı ve Hastalıkları, Çocuk Metabolizma Bölümü, Mersin, Türkiye 13th International Congress of Inborn Errors of Metabolism. 5-8 September, 2017. Rio de Janeiro, Brazil’ Kongresinde sunulmuştur. Deniz KOR1, Berna SEKER YILMAZ2, Fatma Derya BULUT1, Sebile KILAVUZ1, Halise Neslihan ÖNENLİ MUNGAN1 Üre Döngüsü Enzim Eksikliği Tanısı ile İzlenen 20 Hastanın Klinik ve Moleküler Özelliklerinin Değerlendirilmesi: Sekiz Yeni Mutasyon ile Çukurova Üniversitesi Deneyimi Evaluation of Clinical and Molecular Features of 20 Patients with Urea Cycle Enzyme Deficiency: Cukurova University Experience with Eight New Mutations

turkish journal of pediatric disease

Evaluation of Clinical and Molecular Features of 20 Patients with Urea Cycle Enzyme Deficiency: Cukurova University Experience with Eight New Mutations