| 1 | ANHA, NAGS
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| Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
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| Kim JH, Kim YM, Lee BH, Cho JH, Kim GH, Choi JH, Yoo HW.
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| J Hum Genet 60(7):395-7. doi: 10.1038/jhg.2015.30. Epub 2015 Mar 19.
2015
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| 2 | ANHA, NAGS
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| Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome.
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| Van Leynseele A, Jansen A, Goyens P, Martens G, Peeters S, Jonckheere A, De Meirleir L.
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| Eur J Pediatr 173(12):1635-8.
2014
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| 3 | ANHA, NAGS
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| Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.
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| Cartagena A, Prasad AN, Rupar CA, Strong M, Tuchman M, Ah Mew N, Prasad C.
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| Can J Neurol Sci 40(1):3-9. Review.
2013
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| 4 | ANHA, NAGS
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| N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.
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| Heibel SK, Ah Mew N, Caldovic L, Daikhin Y, Yudkoff M, Tuchman M.
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| Hum Mutat 32(10):1153-60. doi: 10.1002/humu.21553. Epub 2011 Sep 9.
2011
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| 5 | ANHA, NAGS
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| N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.
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| Ah Mew N, Caldovic L.
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| Appl Clin Genet 4:127-35. doi: 10.2147/TACG.S12702. Print 2011.
2011
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| 6 | NAGS, ANHA
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| Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.
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| Caldovic L, Morizono H, Tuchman M.
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| Hum Mutat 28(8):754-9. 2007
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| 7 | NAGS, ANHA
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| Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.
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| Schmidt E, Nuoffer JM, Haberle J, Pauli S, Guffon N, Vianey-Saban C, Wermuth B, Koch HG.
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| Biochim Biophys Acta 1740(1):54-9. Epub 2005 Feb 24. 2005
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| 8 | ANHA, NAGS
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| Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
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| Caldovic L, Morizono H, Panglao MG, Cheng SF, Packman S, Tuchman M.
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| Hum Genet 112(4):364-8. Epub 2003 Feb 20. 2003
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