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Literature DB >> 10626533

Partial N-acetyl-glutamate synthetase deficiency masquerading as a valproic acid-induced Reye-like syndrome.

P P Forget¹, M van Oosterhout, J A Bakker, B Wermuth, J S Vles, L J Spaapen.

Abstract

Entities: Chemical Disease

Mesh：

Substances：

Year: 1999 PMID： 10626533 DOI： 10.1080/080352599750030194

Source DB: PubMed Journal: Acta Paediatr ISSN： 0803-5253 Impact factor: 2.299

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9 in total

1. Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.

Authors: Liyan Hu; Khalid Ibrahim; Martin Stucki; Michele Frapolli; Noora Shahbeck; Farrukh A Chaudhry; Boris Görg; Dieter Häussinger; W Todd Penberthy; Tawfeg Ben-Omran; Johannes Häberle
Journal: J Inherit Metab Dis Date: 2015-04-21 Impact factor: 4.982

2. 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 3. 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

4. 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

Partial N-acetyl-glutamate synthetase deficiency masquerading as a valproic acid-induced Reye-like syndrome.

1. Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.

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

Review 3. Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.

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

Review 5. N-acetylglutamate and its changing role through evolution.

6. Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency.

Review 7. Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.

Review 8. Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.

9. N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.