Browsing Makale by Subject "Pediatrics, Perinatology and Child Health"

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    • A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency 

      BİBEROĞLU, GÜRSEL; Kesici, Selman; Ozyazici, Ahmet; Haberle, Johannes; Karaca, Meryem; Olgac, Asburce; Kasapkara, Cigdem S.; Kilic, Mustafa; Derinkuyu, Betul Emine; Azapagasi, Ebru (2020)
      Urea cycle disorders (UCD), are genetically inherited diseases that may have a poor outcome due to to profound hyperammonemia. We report the case of a baby girl diagnosed as N-acetylglutamate synthase (NAGS) deficiency. ...