| 1 | CPS1, NAGS
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| The N-Acetylglutamate Synthase Family: Structures, Function and Mechanisms.
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| Shi D, Allewell NM, Tuchman M.
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| Int J Mol Sci 16(6):13004-22. doi: 10.3390/ijms160613004.
2015
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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | CPS1, NAGS
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| Transcriptional regulation of N-acetylglutamate synthase.
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| Heibel SK, Lopez GY, Panglao M, Sodha S, Mariño-Ramírez L, Tuchman M, Caldovic L.
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| PLoS One 7(2):e29527. doi: 10.1371/journal.pone.0029527. Epub 2012 Feb 27.
2012
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| 6 | 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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| 7 | 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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| 8 | NAGS
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| N-acetylglutamate synthase: structure, function and defects.
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| Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M.
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| Mol Genet Metab 100 Suppl 1:S13-9. doi: 10.1016/j.ymgme.2010.02.018. Epub 2010 Feb 26. Review.
2010
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| 9 | NAGS
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| Mechanism of arginine regulation of acetylglutamate synthase, the first enzyme of arginine synthesis.
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| Sancho-Vaello E, Fernández-Murga ML, Rubio V.
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| FEBS Lett 583(1):202-6. doi: 10.1016/j.febslet.2008.12.001. Epub 2008 Dec 10.
2009
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| 10 | 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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| 11 | 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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| 12 | 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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| 13 | NAGS
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| Cloning and expression of the human N-acetylglutamate synthase gene.
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| Caldovic L, Morizono H, Gracia Panglao M, Gallegos R, Yu X, Shi D, Malamy MH, Allewell NM, Tuchman M.
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| Biochem Biophys Res Commun 299(4):581-6. 2002
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