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Journal Abstract Search

164 related items for PubMed ID: 27570737

  • 1. N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.
    Al Kaabi EH, El-Hattab AW.
    Mol Genet Metab Rep; 2016 Sep; 8():94-8. PubMed ID: 27570737
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  • 2. Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.
    Kenneson A, Singh RH.
    Orphanet J Rare Dis; 2020 Oct 09; 15(1):279. PubMed ID: 33036647
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  • 7. Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency.
    Häberle J.
    Ther Clin Risk Manag; 2011 Oct 09; 7():327-32. PubMed ID: 21941437
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  • 9. Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase.
    Sonaimuthu P, Senkevitch E, Haskins N, Uapinyoying P, McNutt M, Morizono H, Tuchman M, Caldovic L.
    Sci Rep; 2021 Feb 11; 11(1):3580. PubMed ID: 33574402
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  • 10. Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.
    Gessler P, Buchal P, Schwenk HU, Wermuth B.
    Eur J Pediatr; 2010 Feb 11; 169(2):197-9. PubMed ID: 19533169
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  • 11. Datamining approaches for examining the low prevalence of N-acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes.
    Caldovic L, Ahn JJ, Andricovic J, Balick VM, Brayer M, Chansky PA, Dawson T, Edwards AC, Felsen SE, Ismat K, Jagannathan SV, Mann BT, Medina JA, Morizono T, Morizono M, Salameh S, Vashist N, Williams EC, Zhou Z, Morizono H.
    J Inherit Metab Dis; 2024 Nov 11; 47(6):1175-1193. PubMed ID: 37847851
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  • 12. A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency.
    Olgac A, Kasapkara ÇS, Kilic M, Emine Derinkuyu B, Azapagasi E, Kesici S, Biberoğlu G, Ozyazici A, Karaca M, Haberle J.
    Arch Argent Pediatr; 2020 Dec 11; 118(6):e545-e548. PubMed ID: 33231058
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  • 14. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
    Caldovic L, Morizono H, Panglao MG, Cheng SF, Packman S, Tuchman M.
    Hum Genet; 2003 Apr 11; 112(4):364-8. PubMed ID: 12594532
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  • 15. Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.
    Caldovic L, Morizono H, Tuchman M.
    Hum Mutat; 2007 Aug 11; 28(8):754-9. PubMed ID: 17421020
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  • 16. A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.
    Dercksen M, Duran M, IJlst L, Kulik W, Ruiter JP, van Cruchten A, Tuchman M, Wanders RJ.
    Mol Genet Metab; 2016 Dec 11; 119(4):307-310. PubMed ID: 27771289
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  • 17. N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.
    Selvanathan A, Demetriou K, Lynch M, Lipke M, Bursle C, Elliott A, Inwood A, Foyn L, McWhinney B, Coman D, McGill J.
    JIMD Rep; 2022 Sep 11; 63(5):420-424. PubMed ID: 36101823
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  • 18. Mammalian N-acetylglutamate synthase.
    Morizono H, Caldovic L, Shi D, Tuchman M.
    Mol Genet Metab; 2004 Apr 11; 81 Suppl 1(Suppl 1):S4-11. PubMed ID: 15050968
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  • 19. Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.
    Caldovic L, Morizono H, Panglao MG, Lopez GY, Shi D, Summar ML, Tuchman M.
    Hum Mutat; 2005 Mar 11; 25(3):293-8. PubMed ID: 15714518
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  • 20. N-acetylglutamate synthase: structure, function and defects.
    Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M.
    Mol Genet Metab; 2010 Mar 11; 100 Suppl 1(Suppl 1):S13-9. PubMed ID: 20303810
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