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Literature DB >> 1405478

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

A B Burlina¹, C Bachmann, B Wermuth, A Bordugo, V Ferrari, J P Colombo, F Zacchello.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1992 PMID： 1405478 DOI： 10.1007/bf02435986

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

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6 in total

1. Determination of urinary orotate excretion by high-performance liquid chromatography.

Authors: V Ferrari; G Giordano; A T Cracco; N Dussini; L Chiandetti; F Zacchello
Journal: J Chromatogr Date: 1989-12-29

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-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

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

Authors: C Bachmann; S Krähenbühl; J P Colombo; G Schubiger; K H Jaggi; O Tönz
Journal: N Engl J Med Date: 1981-02-26 Impact factor: 91.245

5. N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication.

Authors: G Schubiger; C Bachmann; P Barben; J P Colombo; O Tönz; D Schüpbach
Journal: Eur J Pediatr Date: 1991-03 Impact factor: 3.183

6. N-Acetylglutamate synthetase: enzyme assay in human liver.

Authors: J P Colombo; S Krähenbühl; C Backmann; P Aeberhard
Journal: J Clin Chem Clin Biochem Date: 1982-05

6 in total

10 in total

1. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.

Authors: Ljubica Caldovic; Hiroki Morizono; Maria Gracia Panglao; Sabrina F Cheng; Seymour Packman; Mendel Tuchman
Journal: Hum Genet Date: 2003-02-20 Impact factor: 4.132

Review 2. 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

3. 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

Review 4. N-acetylglutamate and its changing role through evolution.

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

5. 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

6. 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

7. Determination of N-Carbamylglutamate in Feeds and Animal Products by High Performance Liquid Chromatography Tandem Mass Spectrometry.

Authors: Yonghang Ma; Zhengcheng Zeng; Lingchang Kong; Yuanxin Chen; Pingli He
Journal: Molecules Date: 2019-08-31 Impact factor: 4.411