Disease on EC 2.3.1.1 - amino-acid N-acetyltransferase
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amino-acid n-acetyltransferase deficiency
A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy?
amino-acid n-acetyltransferase deficiency
A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
amino-acid n-acetyltransferase deficiency
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate.
amino-acid n-acetyltransferase deficiency
A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency.
amino-acid n-acetyltransferase deficiency
Carglumic acid for the treatment of N-acetylglutamate synthase deficiency and acute hyperammonemia.
amino-acid n-acetyltransferase deficiency
Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder.
amino-acid n-acetyltransferase deficiency
Carglumic acid: new preparation. An advance in rare urea cycle disorders.
amino-acid n-acetyltransferase deficiency
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay.
amino-acid n-acetyltransferase deficiency
ECMO as a Platform for Rapid Ammonia Removal in a Neonate with Multienzyme Urea Cycle Disorder.
amino-acid n-acetyltransferase deficiency
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.
amino-acid n-acetyltransferase deficiency
Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase.
amino-acid n-acetyltransferase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
amino-acid n-acetyltransferase deficiency
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency.
amino-acid n-acetyltransferase deficiency
Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing.
amino-acid n-acetyltransferase deficiency
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
amino-acid n-acetyltransferase deficiency
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.
amino-acid n-acetyltransferase deficiency
Late-onset form of partial N-acetylglutamate synthetase deficiency.
amino-acid n-acetyltransferase deficiency
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
amino-acid n-acetyltransferase deficiency
Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency.
amino-acid n-acetyltransferase deficiency
Low dose of carglumic acid for treatment of hyperammonemia due to N-acetylglutamate synthase deficiency.
amino-acid n-acetyltransferase deficiency
Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy.
amino-acid n-acetyltransferase deficiency
Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis.
amino-acid n-acetyltransferase deficiency
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
amino-acid n-acetyltransferase deficiency
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.
amino-acid n-acetyltransferase deficiency
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.
amino-acid n-acetyltransferase deficiency
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.
amino-acid n-acetyltransferase deficiency
N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.
amino-acid n-acetyltransferase deficiency
N-Acetylglutamate synthetase deficiency responding to carbamylglutamate.
amino-acid n-acetyltransferase deficiency
N-acetylglutamate synthetase deficiency, a second patient.
amino-acid n-acetyltransferase deficiency
N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication.
amino-acid n-acetyltransferase deficiency
N-acetylglutamate synthetase deficiency: clinical and laboratory observations.
amino-acid n-acetyltransferase deficiency
N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication.
amino-acid n-acetyltransferase deficiency
N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.
amino-acid n-acetyltransferase deficiency
N-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects.
amino-acid n-acetyltransferase deficiency
Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test.
amino-acid n-acetyltransferase deficiency
Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
amino-acid n-acetyltransferase deficiency
Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications.
amino-acid n-acetyltransferase deficiency
Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate.
amino-acid n-acetyltransferase deficiency
Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders.
amino-acid n-acetyltransferase deficiency
Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency.
amino-acid n-acetyltransferase deficiency
Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.
amino-acid n-acetyltransferase deficiency
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
amino-acid n-acetyltransferase deficiency
Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate.
amino-acid n-acetyltransferase deficiency
Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency.
amino-acid n-acetyltransferase deficiency
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
amino-acid n-acetyltransferase deficiency
Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency.
amino-acid n-acetyltransferase deficiency
Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.
amino-acid n-acetyltransferase deficiency
Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn n-acetylglutamate synthase deficiency.
amino-acid n-acetyltransferase deficiency
Understanding N-acetyl-L-glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
amino-acid n-acetyltransferase deficiency
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency].
arginase deficiency
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
argininosuccinate lyase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
argininosuccinate lyase deficiency
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
argininosuccinate lyase deficiency
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
argininosuccinate synthase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
argininosuccinate synthase deficiency
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Argininosuccinic Aciduria
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Argininosuccinic Aciduria
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Argininosuccinic Aciduria
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Brain Diseases
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.
carbamoyl-phosphate synthase (ammonia) deficiency
N-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects.
carbamoyl-phosphate synthase (ammonia) deficiency
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
carbamoyl-phosphate synthase (ammonia) deficiency
Understanding N-acetyl-L-glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
Carbamoyl-Phosphate Synthase I Deficiency Disease
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Citrullinemia
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Citrullinemia
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Confusion
Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency.
Hyperargininemia
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Hyperargininemia
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Hyperargininemia
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Infant, Newborn, Diseases
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
Maple Syrup Urine Disease
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Metabolism, Inborn Errors
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.
Movement Disorders
Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders.
ornithine carbamoyltransferase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
ornithine carbamoyltransferase deficiency
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
ornithine carbamoyltransferase deficiency
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Ornithine Carbamoyltransferase Deficiency Disease
Genetic approach to prenatal diagnosis in urea cycle defects.
Ornithine Carbamoyltransferase Deficiency Disease
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Ornithine Carbamoyltransferase Deficiency Disease
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Phenylketonurias
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Propionic Acidemia
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.
Tuberculosis
Structural insights into the substrate binding mechanism of novel ArgA from Mycobacterium tuberculosis.
Urea Cycle Disorders, Inborn
A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency.
Urea Cycle Disorders, Inborn
A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset.
Urea Cycle Disorders, Inborn
Carglumic acid: new preparation. An advance in rare urea cycle disorders.
Urea Cycle Disorders, Inborn
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.
Urea Cycle Disorders, Inborn
Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis.
Urea Cycle Disorders, Inborn
Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.
Urea Cycle Disorders, Inborn
N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication.
Urea Cycle Disorders, Inborn
Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Urea Cycle Disorders, Inborn
Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.
Urea Cycle Disorders, Inborn
Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency.
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