Konu "Pediatrics" için Makale listeleme
Toplam kayıt 1, listelenen: 1-1
-
A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency
(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. ...