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Journal Abstract Search

155 related items for PubMed ID: 27147233

  • 1. Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency.
    van de Logt AE, Kluijtmans LA, Huigen MC, Janssen MC.
    JIMD Rep; 2017; 31():95-99. PubMed ID: 27147233
    [Abstract] [Full Text] [Related]

  • 2. The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency.
    Singh RH, Bourdages MH, Kurtz A, MacLoed E, Norman C, Ratko S, van Calcar SC, Kenneson A.
    Orphanet J Rare Dis; 2024 Apr 18; 19(1):168. PubMed ID: 38637895
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 09; 8():94-8. PubMed ID: 27570737
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
    Häberle J, Moore MB, Haskins N, Rüfenacht V, Rokicki D, Rubio-Gozalbo E, Tuchman M, Longo N, Yandell M, Andrews A, AhMew N, Caldovic L.
    Hum Mutat; 2021 Dec 11; 42(12):1624-1636. PubMed ID: 34510628
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency.
    Häberle J.
    Ther Clin Risk Manag; 2011 Dec 11; 7():327-32. PubMed ID: 21941437
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.
    Ah Mew N, Caldovic L.
    Appl Clin Genet; 2011 Oct 18; 4():127-35. PubMed ID: 23776373
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. 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 24; 169(2):197-9. PubMed ID: 19533169
    [Abstract] [Full Text] [Related]

  • 13. 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 24; 112(4):364-8. PubMed ID: 12594532
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

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  • 17. Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.
    Diez-Fernandez C, Häberle J.
    Expert Opin Ther Targets; 2017 Apr 24; 21(4):391-399. PubMed ID: 28281899
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  • 19. Urea cycle disorders in Thai infants: a report of 5 cases.
    Wasant P, Srisomsap C, Liammongkolkul S, Svasti J.
    J Med Assoc Thai; 2002 Aug 24; 85 Suppl 2():S720-31. PubMed ID: 12403252
    [Abstract] [Full Text] [Related]

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