Literature DB >> 9870213

N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.

A A Morris1, S W Richmond, S J Oddie, M Pourfarzam, V Worthington, J V Leonard.   

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Year:  1998        PMID： 9870213     DOI： 10.1023/a:1005478904186

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  N-Acetylglutamate synthetase deficiency responding to carbamylglutamate.

Authors:  J Hinnie; J P Colombo; B Wermuth; F J Dryburgh
Journal:  J Inherit Metab Dis       Date:  1997-11       Impact factor: 4.982

2.  Development of pyrroline-5-carboxylate synthase and N-acetylglutamate synthase and their changes in lactation and aging.

Authors:  E Yamada; Y Wakabayashi
Journal:  Arch Biochem Biophys       Date:  1991-11-15       Impact factor: 4.013

3.  A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate.

Authors:  N Guffon; C Vianey-Saban; J Bourgeois; D Rabier; J P Colombo; P Guibaud
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982
  3 in total
  20 in total

Review 1.  Treatment strategies for acute metabolic disorders in neonates.

Authors:  Sarar Mohamed
Journal:  Sudan J Paediatr       Date:  2011

2.  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

3.  N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.

Authors:  Nicholas Ah Mew; Robert McCarter; Yevgeny Daikhin; Itzhak Nissim; Marc Yudkoff; Mendel Tuchman
Journal:  Pediatrics       Date:  2010-06-21       Impact factor: 7.124

Review 4.  N-acetylglutamate synthase: structure, function and defects.

Authors:  Ljubica Caldovic; Nicholas Ah Mew; Dashuang Shi; Hiroki Morizono; Marc Yudkoff; Mendel Tuchman
Journal:  Mol Genet Metab       Date:  2010-02-26       Impact factor: 4.797

Review 5.  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 6.  Mammalian N-acetylglutamate synthase.

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

7.  Hyperammonaemia as a cause of psychosis in an adolescent.

Authors:  Amaya Bélanger-Quintana; Mercedes Martínez-Pardo; María José García; Bendicht Wermuth; Julián Torres; Esperanza Pallarés; Magdalena Ugarte
Journal:  Eur J Pediatr       Date:  2003-08-27       Impact factor: 3.183

8.  N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers.

Authors:  Mendel Tuchman; Ljubica Caldovic; Yevgeny Daikhin; Oksana Horyn; Ilana Nissim; Itzhak Nissim; Mark Korson; Barbara Burton; Marc Yudkoff
Journal:  Pediatr Res       Date:  2008-08       Impact factor: 3.756

9.  Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency.

Authors:  Anne-Els van de Logt; Leo A J Kluijtmans; Marleen C D G Huigen; Mirian C H Janssen
Journal:  JIMD Rep       Date:  2016-05-05

Review 10.  N-acetylglutamate and its changing role through evolution.

Authors:  Ljubica Caldovic; Mendel Tuchman
Journal:  Biochem J       Date:  2003-06-01       Impact factor: 3.857
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