Konu "Pediatrics, Perinatology and Child Health" için listeleme
Toplam kayıt 3, listelenen: 1-3
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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. ...