Literature DB >> 9427158

N-Acetylglutamate synthetase deficiency responding to carbamylglutamate.

J Hinnie1, J P Colombo, B Wermuth, F J Dryburgh.   

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Year:  1997        PMID： 9427158     DOI： 10.1023/a:1005344507536

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


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  21 in total

1.  N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.

Authors:  A A Morris; S W Richmond; S J Oddie; M Pourfarzam; V Worthington; J V Leonard
Journal:  J Inherit Metab Dis       Date:  1998-12       Impact factor: 4.982

2.  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

3.  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

4.  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 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

6.  Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.

Authors:  Peter Gessler; Peter Buchal; Hans U Schwenk; Bendicht Wermuth
Journal:  Eur J Pediatr       Date:  2009-06-17       Impact factor: 3.183

Review 7.  Mammalian N-acetylglutamate synthase.

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

8.  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

9.  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

10.  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
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