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  • Title: Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
    Author: Kim JH, Kim YM, Lee BH, Cho JH, Kim GH, Choi JH, Yoo HW.
    Journal: J Hum Genet; 2015 Jul; 60(7):395-7. PubMed ID: 25787344.
    Abstract:
    N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error regarding the urea cycle, however, its diagnosis is important as it can be effectively treated by N-carbamylglutamate. We evaluated a patient with NAGS deficiency who harbored two novel NAGS mutations and who showed excellent responsiveness during 1 year of N-carbamylglutamate treatment.
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