Literature DB >> 7164912

N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment.

C Bachmann, J P Colombo, K Jaggi.   

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Year:  1982        PMID: 7164912     DOI: 10.1007/978-1-4757-6903-6_6

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


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  25 in total

1.  N-acetylglutamate synthetase deficiency: clinical and laboratory observations.

Authors:  A L Pandya; R Koch; F A Hommes; J C Williams
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 2.  Pharmaceutical excipients. Adverse effects associated with 'inactive' ingredients in drug products (Part II).

Authors:  L K Golightly; S S Smolinske; M L Bennett; E W Sutherland; B H Rumack
Journal:  Med Toxicol Adverse Drug Exp       Date:  1988 May-Jun

3.  N-acetylglutamate synthetase deficiency, a second patient.

Authors:  C Bachmann; M Brandis; E Weissenbarth-Riedel; R Burghard; J P Colombo
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

Review 4.  Transcriptional regulation of genes for ornithine cycle enzymes.

Authors:  M Takiguchi; M Mori
Journal:  Biochem J       Date:  1995-12-15       Impact factor: 3.857

5.  Human hepatic N-acetylglutamate content and N-acetylglutamate synthase activity. Determination by stable isotope dilution.

Authors:  M Tuchman; R A Holzknecht
Journal:  Biochem J       Date:  1990-10-15       Impact factor: 3.857

6.  A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase.

Authors:  Emilee Senkevitch; Juan Cabrera-Luque; Hiroki Morizono; Ljubica Caldovic; Mendel Tuchman
Journal:  Mol Genet Metab       Date:  2012-03-17       Impact factor: 4.797

7.  Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis.

Authors:  Nicholas Ah Mew; Irma Payan; Yevgeny Daikhin; Ilana Nissim; Itzhak Nissim; Mendel Tuchman; Marc Yudkoff
Journal:  Mol Genet Metab       Date:  2009-07-14       Impact factor: 4.797

Review 8.  Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.

Authors:  A Cartagena; A N Prasad; C A Rupar; M Strong; M Tuchman; N Ah Mew; C Prasad
Journal:  Can J Neurol Sci       Date:  2013-01       Impact factor: 2.104

Review 9.  Mammalian N-acetylglutamate synthase.

Authors:  Hiroki Morizono; Ljubica Caldovic; Dashuang Shi; Mendel Tuchman
Journal:  Mol Genet Metab       Date:  2004-04       Impact factor: 4.797

10.  N-carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia.

Authors:  S Jones; C A B Reed; S Vijay; J H Walter; A A M Morris
Journal:  J Inherit Metab Dis       Date:  2008-02-21       Impact factor: 4.982

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