Literature DB >> 7741005

N-acetylglutamate synthetase (NAGS) deficiency.

J P Colombo1.   

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Year:  1994        PMID： 7741005     DOI： 10.1007/978-1-4615-1989-8_14

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  4 in total

Review 1.  Effects of hyperammonemia and liver failure on glutamatergic neurotransmission.

Authors:  Pilar Monfort; María-Dolores Muñoz; Amina ElAyadi; Elena Kosenko; Vicente Felipo
Journal:  Metab Brain Dis       Date:  2002-12       Impact factor: 3.584

2.  Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay.

Authors:  J Häberle; J Denecke; E Schmidt; H G Koch
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

3.  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

Review 4.  Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.

Authors:  Aileen Kenneson; Rani H Singh
Journal:  Orphanet J Rare Dis       Date:  2020-10-09       Impact factor: 4.123
  4 in total

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