Hyperammonemia, type III
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.
|
30337552 |
2018 |
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
CLINGEN |
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
|
27037498 |
2016 |
Hyperammonemia, type III
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
|
27037498 |
2016 |
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
BEFREE |
The novel NAGS enzyme assay reported herein can be used for the diagnosis of inherited NAGS deficiency and may also be of value in the study of secondary hyperammonemia present in various inborn errors of metabolism as well as drug treatment.
|
27771289 |
2016 |
Hyperammonemia, type III
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
We evaluated a patient with NAGS deficiency who harbored two novel NAGS mutations and who showed excellent responsiveness during 1 year of N-carbamylglutamate treatment.
|
25787344 |
2015 |
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
CLINGEN |
A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase.
|
22503289 |
2012 |
Hyperammonemia, type III
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
In conclusion, overexpression of wild type and mutated NAGS proteins in E. coli provides a suitable tool for functional analysis of NAGS deficiency.
|
15878741 |
2005 |
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
CLINGEN |
These studies provide a better understanding of the function of NAGS, and the mechanisms for deleterious effect of mutations causing inherited NAGS deficiency.
|
15714518 |
2005 |
Hyperammonemia, type III
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
These studies provide a better understanding of the function of NAGS, and the mechanisms for deleterious effect of mutations causing inherited NAGS deficiency.
|
15714518 |
2005 |
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
BEFREE |
In conclusion, overexpression of wild type and mutated NAGS proteins in E. coli provides a suitable tool for functional analysis of NAGS deficiency.
|
15878741 |
2005 |
Hyperammonemia, type III
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
|
12754705 |
2003 |
Hyperammonemia, type III
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency.
|
12594532 |
2003 |
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
CLINGEN |
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
|
12754705 |
2003 |
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
CLINGEN |
The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency.
|
12594532 |
2003 |
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency.
|
12594532 |
2003 |
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
CTD_human |
The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency.
|
12594532 |
2003 |
Hyperammonemia, type III
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency.
|
12594532 |
2003 |
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
CTD_human |
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
|
12754705 |
2003 |
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
CLINGEN |
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.
|
12447942 |
2002 |
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
CLINGEN |
Mitochondrial carbamoyl phosphate synthetase activity in the absence of N-acetyl-L-glutamate. Mechanism of activation by this cofactor.
|
6223815 |
1983 |
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
CLINGEN |
Enzymatic synthesis of acetylglutamate by mammalian liver preparations and its stimulation by arginine.
|
5160402 |
1971 |
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hyperammonemia, type III
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hyperammonemia, type III
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|