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Journal Abstract Search

145 related items for PubMed ID: 38637895

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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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  • 3. 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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  • 4. N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.
    Williams M, Burlina A, Rubert L, Polo G, Ruijter GJG, van den Born M, Rüfenacht V, Haskins N, van Zutven LJCM, Tuchman M, Saris JJ, Häberle J, Caldovic L.
    Sci Rep; 2018 Oct 18; 8(1):15436. PubMed ID: 30337552
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  • 9. 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 18; 118(6):e545-e548. PubMed ID: 33231058
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  • 10. 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 18; 8():94-8. PubMed ID: 27570737
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  • 11. 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 18; 119(4):307-310. PubMed ID: 27771289
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  • 15. Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
    Cavicchi C, Chilleri C, Fioravanti A, Ferri L, Ripandelli F, Costa C, Calabresi P, Prontera P, Pochiero F, Pasquini E, Funghini S, la Marca G, Donati MA, Morrone A.
    Int J Mol Sci; 2018 Jan 24; 19(2):. PubMed ID: 29364180
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  • 16. Carglumic acid for the treatment of N-acetylglutamate synthase deficiency and acute hyperammonemia.
    Häberle J.
    Expert Rev Endocrinol Metab; 2012 May 24; 7(3):263-271. PubMed ID: 30780843
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  • 17. Down-regulation of hepatic urea synthesis by oxypurines: xanthine and uric acid inhibit N-acetylglutamate synthase.
    Nissim I, Horyn O, Nissim I, Daikhin Y, Caldovic L, Barcelona B, Cervera J, Tuchman M, Yudkoff M.
    J Biol Chem; 2011 Jun 24; 286(25):22055-68. PubMed ID: 21540182
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  • 19. Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.
    Caldovic L, Morizono H, Tuchman M.
    Hum Mutat; 2007 Aug 24; 28(8):754-9. PubMed ID: 17421020
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  • 20. A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase.
    Senkevitch E, Cabrera-Luque J, Morizono H, Caldovic L, Tuchman M.
    Mol Genet Metab; 2012 Jun 24; 106(2):160-8. PubMed ID: 22503289
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