Yazar "Olgac, Asburce" için listeleme
-
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. ...