Disease: Hyperammonemia due to NAGS deficiency
- A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy?
- A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase
- A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue
- A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency
- A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset
- Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients
- Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options
- Carglumic acid for the treatment of N-acetylglutamate synthase deficiency and acute hyperammonemia
- Carglumic Acid Treatment of a Patient with Recurrent Valproic Acid-induced Hyperammonemia: A Rare Case Report
- Cloning and expression of the human N-acetylglutamate synthase gene
- Contrasting features of urea cycle disorders in human patients and knockout mouse models
- Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency
- Diagnosis and treatment of urea cycle disorder in Japan
- Early care of <em>N</em>-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family
- Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family
- Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome
- Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders
- Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial
- Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency
- Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase
- Hyperammonaemia as a cause of psychosis in an adolescent
- Hyperammonemia
- Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency
- Hyperammonemic encephalopathy in an adenocarcinoma patient managed with carglumic acid
- Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies
- Identification, cloning and expression of the mouse N-acetylglutamate synthase gene
- Interaction of Excitatory Amino Acid Transporters 1 - 3 (EAAT1, EAAT2, EAAT3) with N-Carbamoylglutamate and N-Acetylglutamate
- Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles
- Late-onset form of partial N-acetylglutamate synthetase deficiency
- Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature
- Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report
- Low dose of carglumic acid for treatment of hyperammonemia due to N-acetylglutamate synthase deficiency
- Mammalian N-acetylglutamate synthase
- Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis
- Mutation analysis in patients with N-acetylglutamate synthase deficiency
- Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene
- N-acetyl-glutamate synthetase deficiency or porto-systemic shunt associated encephalopathy?
- N-acetylglutamate and its changing role through evolution
- N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy
- N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region
- N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report
- N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment
- N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra
- N-acetylglutamate synthase: structure, function and defects
- N-acetylglutamate synthetase deficiency: clinical and laboratory observations
- N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication
- N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers
- Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders
- Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test
- Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene
- Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications
- Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency
- Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia
- Orphan drugs and metabolic disorders
- Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management
- Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate
- Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency
- Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature
- Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency
- The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency
- Transient hyperammonemias in infants with and without organic acidemia
- Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn n-acetylglutamate synthase deficiency
- Urea cycle disorders and indications for liver transplantation