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Short-term efficacy of N -carbamylglutamate in a patient with N -acetylglutamate synthase deficiency
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نویسنده
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Kim Ja Hye ,Kim Yoo-Mi ,Lee Beom Hee ,Cho Ja Hyang ,Kim Gu-Hwan ,Choi Jin-Ho ,Yoo Han-Wook
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منبع
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journal of human genetics - 2015 - دوره : 60 - شماره : 7 - صفحه:395 -397
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چکیده
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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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آدرس
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University of Ulsan College of Medicine, Department of Pediatrics, Korea, Pusan National University, Department of Pediatrics, Korea, University of Ulsan College of Medicine, Department of Pediatrics, Korea, University of Ulsan College of Medicine, Department of Pediatrics, Korea, University of Ulsan College of Medicine, Korea, University of Ulsan College of Medicine, Department of Pediatrics, Korea, University of Ulsan College of Medicine, Department of Pediatrics, Korea
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Authors
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