Literature DB >> 7453791

N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication.

C Bachmann, S Krähenbühl, J P Colombo, G Schubiger, K H Jaggi, O Tönz.   

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Year:  1981        PMID： 7453791     DOI： 10.1056/NEJM198102263040918

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  30 in total

1.  Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders.

Authors:  A B Burlina; C Bachmann; B Wermuth; A Bordugo; V Ferrari; J P Colombo; F Zacchello
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Late-onset form of partial N-acetylglutamate synthetase deficiency.

Authors:  O N Elpeleg; J P Colombo; N Amir; C Bachmann; H Hurvitz
Journal:  Eur J Pediatr       Date:  1990-06       Impact factor: 3.183

3.  N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.

Authors:  Sandra K Heibel; Nicholas Ah Mew; Ljubica Caldovic; Yevgeny Daikhin; Marc Yudkoff; Mendel Tuchman
Journal:  Hum Mutat       Date:  2011-09-09       Impact factor: 4.878

4.  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

5.  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

6.  Potentiation of hyperammonemia by sodium benzoate in animals. A note of caution.

Authors:  J E O'Connor; M Ribelles; S Grisolia
Journal:  Eur J Pediatr       Date:  1982-03       Impact factor: 3.183

7.  Carbamyl phosphate synthetase deficiency with lethal neonatal outcome.

Authors:  J Jaeken; H Devlieger; C Bachmann; J Van Aerde; L Corbeel; E Eggermont
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183

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

9.  Orthotopic liver transplantation for urea cycle enzyme deficiency.

Authors:  S Todo; T E Starzl; A Tzakis; K J Benkov; F Kalousek; T Saheki; K Tanikawa; W A Fenton
Journal:  Hepatology       Date:  1992-03       Impact factor: 17.425

10.  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
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