Literature DB >> 25994872

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

Masaki Takayanagi1.   

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Year:  2015        PMID： 25994872     DOI： 10.1038/jhg.2015.38

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  5 in total

1.  Long-term outcome and intervention of urea cycle disorders in Japan.

Authors:  Jun Kido; Kimitoshi Nakamura; Hiroshi Mitsubuchi; Toshihiro Ohura; Masaki Takayanagi; Masafumi Matsuo; Makoto Yoshino; Yosuke Shigematsu; Tohru Yorifuji; Mureo Kasahara; Reiko Horikawa; Fumio Endo
Journal:  J Inherit Metab Dis       Date:  2011-12-14       Impact factor: 4.982

Review 2.  A longitudinal study of urea cycle disorders.

Authors:  Mark L Batshaw; Mendel Tuchman; Marshall Summar; Jennifer Seminara
Journal:  Mol Genet Metab       Date:  2014-08-10       Impact factor: 4.797

3.  Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.

Authors:  Ja Hye Kim; Yoo-Mi Kim; Beom Hee Lee; Ja Hyang Cho; Gu-Hwan Kim; Jin-Ho Choi; Han-Wook Yoo
Journal:  J Hum Genet       Date:  2015-03-19       Impact factor: 3.172

Review 4.  Suggested guidelines for the diagnosis and management of urea cycle disorders.

Authors:  Johannes Häberle; Nathalie Boddaert; Alberto Burlina; Anupam Chakrapani; Marjorie Dixon; Martina Huemer; Daniela Karall; Diego Martinelli; Pablo Sanjurjo Crespo; René Santer; Aude Servais; Vassili Valayannopoulos; Martin Lindner; Vicente Rubio; Carlo Dionisi-Vici
Journal:  Orphanet J Rare Dis       Date:  2012-05-29       Impact factor: 4.123

5.  Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency.

Authors:  Johannes Häberle
Journal:  Ther Clin Risk Manag       Date:  2011-08-02       Impact factor: 2.423
  5 in total
  2 in total

Review 1.  Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.

Authors:  Susan E Waisbren; Arianna K Stefanatos; Teresa M Y Kok; Burcu Ozturk-Hismi
Journal:  J Inherit Metab Dis       Date:  2019-08-01       Impact factor: 4.982

2.  Meat Quality and Fatty Acid Profiles of Chinese Ningxiang Pigs Following Supplementation with N-Carbamylglutamate.

Authors:  Yueteng Xing; Xin Wu; Chunyan Xie; Dingfu Xiao; Bin Zhang
Journal:  Animals (Basel)       Date:  2020-01-06       Impact factor: 2.752
  2 in total

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