×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
Biomarker
phenotype
BEFREE
An adult female patient was diagnosed with arginase 1 deficiency (ARG1 -D) at 4 years of age, and had been managed with protein restriction combined with sodium benzoate therapy.
31604595
2020
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
Biomarker
phenotype
BEFREE
These results suggest that delivery of <i>ARG1 </i> mRNA by liver-targeted nanoparticles may be a viable gene-based therapeutic for the treatment of arginase deficiency .
31501335
2019
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
GeneticVariation
phenotype
BEFREE
Current Standard of Care (SOC) for ARG1 deficiency in patients or those having detrimental mutations of ARG1 gene is diet control.
29923457
2018
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
Biomarker
phenotype
BEFREE
Recent studies have highlighted the therapeutic importance of bimetallic human arginase-I against hyperargininemia and L-arginine auxotrophic cancers.
30282613
2018
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
Biomarker
phenotype
BEFREE
Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure.
29961243
2018
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
GeneticVariation
phenotype
BEFREE
Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old.
29443755
2018
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
Biomarker
phenotype
CLINGEN
Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report.
29443755
2018
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
GeneticVariation
phenotype
BEFREE
Newborn screening for hyperargininemia due to arginase 1 deficiency.
28659245
2017
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
GeneticVariation
phenotype
BEFREE
Three novel mutations of ARG1 identified in Chinese patients with argininemia detected by newborn screening.
28089752
2017
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
GeneticVariation
phenotype
CLINVAR
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
27038030
2016
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
Biomarker
phenotype
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
CausalMutation
phenotype
CLINVAR
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
27038030
2016
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
Biomarker
phenotype
BEFREE
We tested whether one of these enzymes, a pegylated human recombinant arginase 1 (AEB1102 ), reduces plasma arginine in murine models of arginase deficiency .
26358771
2015
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
GeneticVariation
phenotype
BEFREE
Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature.
26123990
2015
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
GeneticVariation
phenotype
BEFREE
In this article, we describe the results of molecular studies in a young hyperargininemia patient carrying a novel splicing mutation in ARG1 .
26169240
2015
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
Biomarker
phenotype
GENOMICS_ENGLAND
[Seven patients of argininemia with spastic tetraplegia as the first and major symptom and prenatal diagnosis of two fetuses with high risk].
26310552
2015
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
CausalMutation
phenotype
CLINVAR
Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia.
26169240
2015
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
Biomarker
phenotype
BEFREE
This review briefly highlights the current understanding of the etiology and pathophysiology of ARG1 deficiency derived from clinical case reports and therapeutic strategies stretching over several decades and reports on several exciting new developments regarding the pathophysiology of the disorder using ARG1 global and inducible knockout mouse models.
26467175
2015
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
GeneticVariation
phenotype
CLINVAR
Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.
24103480
2014
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
CausalMutation
phenotype
CLINVAR
Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.
24103480
2014
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
GeneticVariation
phenotype
BEFREE
Hyperargininemia due to mutations in ARG1 gene is an autosomal recessive inborn error of metabolism caused by a defect in the final step of the urea cycle.
24997092
2014
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
GeneticVariation
phenotype
BEFREE
We found a novel complex re-arrangement involving insertion, inversion and gross deletion of ARG1 (designated g.insIVS1+1899GTTTTATCAT;g.invIVS1+1933_+1953;g.delIVS1+1954_IVS2+914;c.del116_188;p.Pro20SerfsX4 ) commonly shared by 5 patients with hyperargininemia , each originating from different family.
24103480
2014
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
GeneticVariation
phenotype
CLINVAR
Five novel mutations in ARG1 gene in Chinese patients of argininemia.
23859858
2013
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
Biomarker
phenotype
CLINGEN
Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse.
23920045
2013
×
Entrez Id:
383
Gene Symbol:
ARG1
ARG1
1.000
GeneticVariation
phenotype
UNIPROT
Five novel mutations in ARG1 gene in Chinese patients of argininemia.
23859858
2013