×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
0.760
GeneticVariation
disease
BEFREE
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.
30337552
2018
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
0.760
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
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
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
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
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
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
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
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
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
0.760
Biomarker
disease
CLINGEN
A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase.
22503289
2012
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
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
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
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
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
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
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
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
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
0.760
GeneticVariation
disease
UNIPROT
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
12754705
2003
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
0.760
GeneticVariation
disease
CLINVAR
The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency .
12594532
2003
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
0.760
Biomarker
disease
CLINGEN
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
12754705
2003
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
0.760
Biomarker
disease
CLINGEN
The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency .
12594532
2003
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
0.760
Biomarker
disease
GENOMICS_ENGLAND
The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency .
12594532
2003
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
0.760
Biomarker
disease
CTD_human
The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency .
12594532
2003
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
0.760
GeneticVariation
disease
BEFREE
The finding of deleterious mutations in the NAGS gene confirms the genetic origin of NAGS deficiency .
12594532
2003
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
0.760
Biomarker
disease
CTD_human
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
12754705
2003
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
0.760
Biomarker
disease
CLINGEN
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.
12447942
2002
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
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
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
0.760
Biomarker
disease
CLINGEN
Enzymatic synthesis of acetylglutamate by mammalian liver preparations and its stimulation by arginine.
5160402
1971
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
0.760
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
0.760
CausalMutation
disease
CLINVAR