|
Hyperargininemia
|
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 |
|
Hyperargininemia
|
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 |
|
Hyperargininemia
|
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 |
|
Hyperargininemia
|
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 |
|
Hyperargininemia
|
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 |
|
Hyperargininemia
|
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 |
|
Hyperargininemia
|
1.000 |
Biomarker
|
phenotype |
CLINGEN |
Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report.
|
29443755 |
2018 |
|
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Newborn screening for hyperargininemia due to arginase 1 deficiency.
|
28659245 |
2017 |
|
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Three novel mutations of ARG1 identified in Chinese patients with argininemia detected by newborn screening.
|
28089752 |
2017 |
|
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
CLINVAR |
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
|
27038030 |
2016 |
|
Hyperargininemia
|
1.000 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Hyperargininemia
|
1.000 |
CausalMutation
|
phenotype |
CLINVAR |
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
|
27038030 |
2016 |
|
Hyperargininemia
|
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 |
|
Hyperargininemia
|
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 |
|
Hyperargininemia
|
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 |
|
Hyperargininemia
|
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 |
|
Hyperargininemia
|
1.000 |
CausalMutation
|
phenotype |
CLINVAR |
Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia.
|
26169240 |
2015 |
|
Hyperargininemia
|
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 |
|
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
CLINVAR |
Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.
|
24103480 |
2014 |
|
Hyperargininemia
|
1.000 |
CausalMutation
|
phenotype |
CLINVAR |
Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.
|
24103480 |
2014 |
|
Hyperargininemia
|
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 |
|
Hyperargininemia
|
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 |
|
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
CLINVAR |
Five novel mutations in ARG1 gene in Chinese patients of argininemia.
|
23859858 |
2013 |
|
Hyperargininemia
|
1.000 |
Biomarker
|
phenotype |
CLINGEN |
Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse.
|
23920045 |
2013 |
|
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
UNIPROT |
Five novel mutations in ARG1 gene in Chinese patients of argininemia.
|
23859858 |
2013 |