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
  • [1] A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency
    Masaki Takayanagi
    Journal of Human Genetics, 2015, 60 : 347 - 347
  • [2] Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency
    Ja Hye Kim
    Yoo-Mi Kim
    Beom Hee Lee
    Ja Hyang Cho
    Gu-Hwan Kim
    Jin-Ho Choi
    Han-Wook Yoo
    Journal of Human Genetics, 2015, 60 : 395 - 397
  • [3] Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency
    Kim, Ja Hye
    Kim, Yoo-Mi
    Lee, Beom Hee
    Cho, Ja Hyang
    Kim, Gu-Hwan
    Choi, Jin-Ho
    Yoo, Han-Wook
    JOURNAL OF HUMAN GENETICS, 2015, 60 (07) : 395 - 397
  • [4] Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate
    Caldovic, L
    Morizono, H
    Daikhin, Y
    Nissim, I
    McCarter, RJ
    Yudkoff, M
    Tuchman, M
    JOURNAL OF PEDIATRICS, 2004, 145 (04): : 552 - 554
  • [5] The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency
    Singh, Rani H.
    Bourdages, Marie-Helene
    Kurtz, Angela
    Macloed, Erin
    Norman, Chelsea
    Ratko, Suzanne
    van Calcar, Sandra C.
    Kenneson, Aileen
    ORPHANET JOURNAL OF RARE DISEASES, 2024, 19 (01)
  • [6] A NEW NEONATAL CASE OF N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY TREATED BY CARBAMYLGLUTAMATE
    GUFFON, N
    VIANEYSABAN, C
    BOURGEOIS, J
    RABIER, D
    COLOMBO, JP
    GUIBAUD, P
    JOURNAL OF INHERITED METABOLIC DISEASE, 1995, 18 (01) : 61 - 65
  • [7] N-acetylglutamate synthetase deficiency responding to carbamylglutamate
    Hinnie, J
    Colombo, JP
    Wermuth, B
    Dryburgh, FJ
    JOURNAL OF INHERITED METABOLIC DISEASE, 1997, 20 (06) : 839 - 840
  • [8] N-acetylglutamate synthetase deficiency:: Favourable experience with carbamylglutamate
    Morris, AAM
    Richmond, SWJ
    Oddie, SJ
    Pourfarzam, M
    Worthington, V
    Leonard, JV
    JOURNAL OF INHERITED METABOLIC DISEASE, 1998, 21 (08) : 867 - 868
  • [9] N-carbamylglutamate Markedly Enhances Ureagenesis in N-acetylglutamate Deficiency and Propionic Acidemia as Measured by Isotopic Incorporation and Blood Biomarkers
    Mendel Tuchman
    Ljubica Caldovic
    Yevgeny Daikhin
    Oksana Horyn
    Ilana Nissim
    Itzhak Nissim
    Mark Korson
    Barbara Burton
    Marc Yudkoff
    Pediatric Research, 2008, 64 : 213 - 217
  • [10] Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate
    B. Plecko
    W. Erwa
    B. Wermuth
    European Journal of Pediatrics, 1998, 157 : 996 - 998