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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

151 related items for PubMed ID: 17421020

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  • 3. 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; 25(3):293-8. PubMed ID: 15714518
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  • 4. Mammalian N-acetylglutamate synthase.
    Morizono H, Caldovic L, Shi D, Tuchman M.
    Mol Genet Metab; 2004 Apr; 81 Suppl 1(Suppl 1):S4-11. PubMed ID: 15050968
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  • 7. 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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  • 10. 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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  • 11. N-acetylglutamate synthase: structure, function and defects.
    Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M.
    Mol Genet Metab; 2010 Feb 11; 100 Suppl 1(Suppl 1):S13-9. PubMed ID: 20303810
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  • 12. 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
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  • 13. Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
    Sancho-Vaello E, Marco-Marín C, Gougeard N, Fernández-Murga L, Rüfenacht V, Mustedanagic M, Rubio V, Häberle J.
    Hum Mutat; 2016 Jul 18; 37(7):679-94. PubMed ID: 27037498
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  • 16. 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 18; 52(6):845-9. PubMed ID: 12447942
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