A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency

被引:2
|
作者
Takayanagi, Masaki [1 ]
机构
[1] Chiba Childrens Hosp, Dept Pediat, Chiba, Japan
关键词
UREA CYCLE DISORDERS;
D O I
10.1038/jhg.2015.38
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:347 / 347
页数:1
相关论文
共 50 条
  • [21] THE N-ACETYLGLUTAMATE CONTENT AND N-ACETYLGLUTAMATE SYNTHASE ACTIVITY OF HUMAN LIVER - A REPLY
    TUCHMAN, M
    HOLZKNECHT, RA
    BIOCHEMICAL JOURNAL, 1991, 275 : 822 - 822
  • [22] Mammalian N-acetylglutamate synthase
    Morizono, H
    Caldovic, L
    Shi, DS
    Tuchman, M
    MOLECULAR GENETICS AND METABOLISM, 2004, 81 : S4 - S11
  • [23] A RAPID, IMPROVED METHOD FOR DETECTION OF N-ACETYLGLUTAMATE, N-CARBAMYLGLUTAMATE, AND N-ACETYLASPARTATE BY HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY
    Fraser, Jamie
    Chau, Nhu
    Zhou, Yun
    Cunningham, Gary
    MOLECULAR GENETICS AND METABOLISM, 2023, 138 (03) : 39 - 40
  • [24] Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature
    Kenneson, Aileen
    Singh, Rani H.
    ORPHANET JOURNAL OF RARE DISEASES, 2020, 15 (01)
  • [25] Recurrent Encephalopathy: NAGS (N-Acetylglutamate Synthase) Deficiency in Adults
    Cartagena, A.
    Prasad, A. N.
    Rupar, C. A.
    Strong, M.
    Tuchman, M.
    Mew, N. Ah
    Prasad, C.
    CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 2013, 40 (01) : 3 - 9
  • [26] Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature
    Aileen Kenneson
    Rani H. Singh
    Orphanet Journal of Rare Diseases, 15
  • [27] DEFICIENCY OF N-ACETYLGLUTAMATE SYNTHASE (NAGS) PRESENTING AS POSTPARTUM HYPERAMMONEMIA
    McNutt, Markey C.
    Ni, Min
    Deberardinis, Ralph
    Gotway, Garrett
    MOLECULAR GENETICS AND METABOLISM, 2018, 123 (03) : 250 - 250
  • [28] Short-term trial with N-carbamylglutamate increases ureagenesis in some patients with CPS1 deficiency
    Mew, N. Ah
    Daikhin, E.
    Payan, I.
    Nissim, I.
    Nissim, I.
    Yudkoff, M.
    Tuchman, M.
    MOLECULAR GENETICS AND METABOLISM, 2012, 105 (03) : 300 - 300
  • [29] 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.
    SCIENTIFIC REPORTS, 2021, 11 (01)
  • [30] Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase
    P. Sonaimuthu
    E. Senkevitch
    N. Haskins
    P. Uapinyoying
    M. McNutt
    H. Morizono
    M. Tuchman
    L. Caldovic
    Scientific Reports, 11