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Journal Abstract Search

273 related items for PubMed ID: 33036647

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  • 5. 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; 119(4):307-310. PubMed ID: 27771289
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  • 6. Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
    Kim JH, Kim YM, Lee BH, Cho JH, Kim GH, Choi JH, Yoo HW.
    J Hum Genet; 2015 Jul; 60(7):395-7. PubMed ID: 25787344
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  • 9. 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; 169(2):197-9. PubMed ID: 19533169
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  • 12. 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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  • 13. 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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  • 14. 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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  • 17. A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset.
    Nordenström A, Halldin M, Hallberg B, Alm J.
    J Inherit Metab Dis; 2007 Jun 24; 30(3):400. PubMed ID: 17510757
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  • 18. N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.
    Elpeleg O, Shaag A, Ben-Shalom E, Schmid T, Bachmann C.
    Ann Neurol; 2002 Dec 24; 52(6):845-9. PubMed ID: 12447942
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  • 20. Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency.
    van de Logt AE, Kluijtmans LA, Huigen MC, Janssen MC.
    JIMD Rep; 2017 Dec 24; 31():95-99. PubMed ID: 27147233
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