EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
3.5.3.1 | arginase deficiency |
6468738 |
Hyperargininemia: the rat as a model for the human disease and the comparative response to enzyme replacement therapy with free arginase and arginase-loaded erythrocytes in vivo. |
diagnostic usage ongoing research therapeutic application unassigned |
2 4 3 0 |
3.5.3.1 | arginase deficiency |
6729810 |
A successful trial of enzyme replacement therapy in a case of argininemia. |
causal interaction unassigned |
3 0 |
3.5.3.1 | arginase deficiency |
6796772 |
Urinary pyrimidine excretion in arginase deficiency. |
causal interaction diagnostic usage therapeutic application unassigned |
3 2 1 0 |
3.5.3.1 | arginase deficiency |
6820432 |
Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet. |
therapeutic application unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
7159597 |
Polyamine dependence of Chinese hamster ovary cells in serum-free culture is due to deficient arginase activity. |
ongoing research unassigned |
1 0 |
3.5.3.1 | arginase deficiency |
7361766 |
Properties of fetal and adult red blood cell arginase: a possible prenatal diagnostic test for arginase deficiency. |
causal interaction diagnostic usage ongoing research unassigned |
1 2 3 0 |
3.5.3.1 | arginase deficiency |
7389092 |
Fluorometric micromethod for determination of arginase activity in dried blood spots on filter paper. |
causal interaction diagnostic usage therapeutic application unassigned |
3 3 2 0 |
3.5.3.1 | arginase deficiency |
7717428 |
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases. |
causal interaction diagnostic usage unassigned |
2 3 0 |
3.5.3.1 | arginase deficiency |
7967487 |
Arginase deficiency presenting with convulsions. |
unassigned |
0 |
3.5.3.1 | arginase deficiency |
8127062 |
Arginase deficiency in two brothers. |
therapeutic application unassigned |
1 0 |
3.5.3.1 | arginase deficiency |
8454280 |
Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
8474825 |
Arginase deficiency presenting as cerebral palsy. |
causal interaction diagnostic usage therapeutic application unassigned |
4 4 1 0 |
3.5.3.1 | arginase deficiency |
8777806 |
[A case of complicated form of hereditary spastic paraplegia associated with hypoplasia of the corpus callosum and cataracta] |
causal interaction unassigned |
3 0 |
3.5.3.1 | arginase deficiency |
8902193 |
Loss of function mutations in conserved regions of the human arginase I gene. |
unassigned |
0 |
3.5.3.1 | arginase deficiency |
9131018 |
Delivery of cytosolic liver arginase into the mitochondrial matrix space: a possible novel site for gene replacement therapy. |
unassigned |
0 |
3.5.3.1 | arginase deficiency |
9295913 |
[Proposal for a diet treatment in arginase deficiency] |
therapeutic application unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
9590022 |
[Arginase deficiency] |
unassigned |
0 |
3.5.3.1 | arginase deficiency |
9686347 |
The human arginases and arginase deficiency. |
ongoing research unassigned |
3 0 |
3.5.3.1 | arginase deficiency |
9762606 |
Adult-onset arginase deficiency. |
unassigned |
0 |
3.5.3.1 | arginase deficiency |
10771848 |
Arginase deficiency. |
causal interaction unassigned |
3 0 |
3.5.3.1 | arginase deficiency |
10947208 |
Arginase deficiency presenting with cerebral oedema and failure to thrive. |
unassigned |
0 |
3.5.3.1 | arginase deficiency |
11148548 |
The nutritional management of urea cycle disorders. |
causal interaction diagnostic usage unassigned |
1 3 0 |
3.5.3.1 | arginase deficiency |
11154268 |
Generation of a mouse model for arginase II deficiency by targeted disruption of the arginase II gene. |
causal interaction therapeutic application unassigned |
2 1 0 |
3.5.3.1 | arginase deficiency |
11746885 |
Analysis of amino acids as formamidene butyl esters by electrospray ionization tandem mass spectrometry. |
diagnostic usage unassigned |
1 0 |
3.5.3.1 | arginase deficiency |
12052859 |
Mouse model for human arginase deficiency. |
causal interaction diagnostic usage ongoing research unassigned |
4 3 4 0 |
3.5.3.1 | arginase deficiency |
12640389 |
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. |
causal interaction unassigned |
1 0 |
3.5.3.1 | arginase deficiency |
14605507 |
Prenatal diagnosis for arginase deficiency: a case study. |
causal interaction diagnostic usage therapeutic application unassigned |
4 4 3 0 |
3.5.3.1 | arginase deficiency |
15164414 |
Genetic approach to prenatal diagnosis in urea cycle defects. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
15465784 |
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
15546957 |
Arginase I is constitutively expressed in human granulocytes and participates in fungicidal activity. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
15565656 |
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis. |
causal interaction diagnostic usage therapeutic application unassigned |
4 4 1 0 |
3.5.3.1 | arginase deficiency |
15694174 |
Hyperargininemia due to liver arginase deficiency. |
causal interaction therapeutic application unassigned |
4 1 0 |
3.5.3.1 | arginase deficiency |
15798789 |
Autistic-like findings associated with a urea cycle disorder in a 4-year-old girl. |
causal interaction diagnostic usage unassigned |
1 1 0 |
3.5.3.1 | arginase deficiency |
16233191 |
Different missense mutations in PDR1 and PDR3 genes from clotrimazole-resistant sake yeast are responsible for pleiotropic drug resistance and improved fermentative activity. |
causal interaction diagnostic usage unassigned |
3 3 0 |
3.5.3.1 | arginase deficiency |
16602094 |
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. |
causal interaction diagnostic usage unassigned |
4 3 0 |
3.5.3.1 | arginase deficiency |
16963300 |
A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessation. |
therapeutic application unassigned |
3 0 |
3.5.3.1 | arginase deficiency |
17098461 |
Ornithine transcarbamylase and arginase I deficiency are responsible for diminished urea cycle function in the human hepatoblastoma cell line HepG2. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
17513443 |
Orotic acid excretion and arginine metabolism. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
17513445 |
Biomarkers identified in inborn errors for lysine, arginine, and ornithine. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
17997338 |
Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia. |
causal interaction therapeutic application unassigned |
4 1 0 |
3.5.3.1 | arginase deficiency |
18950360 |
Anesthesia in a patient with arginase deficiency: implications and management. |
causal interaction therapeutic application unassigned |
3 2 0 |
3.5.3.1 | arginase deficiency |
19052914 |
Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
19367256 |
Short-term Correction of Arginase Deficiency in a Neonatal Murine Model With a Helper-dependent Adenoviral Vector. |
ongoing research therapeutic application unassigned |
1 1 0 |
3.5.3.1 | arginase deficiency |
19486531 |
Bone marrow cell derived arginase I is the major source of allergen-induced lung arginase but is not required for airway hyperresponsiveness, remodeling and lung inflammatory responses in mice. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
19936428 |
A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
20004862 |
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. |
causal interaction diagnostic usage ongoing research unassigned |
4 3 1 0 |
3.5.3.1 | arginase deficiency |
20304692 |
Creatine metabolism and the urea cycle. |
causal interaction diagnostic usage unassigned |
4 1 0 |
3.5.3.1 | arginase deficiency |
20372170 |
Impact of arginase II on CBF in experimental cortical impact injury in mice using MRI. |
therapeutic application unassigned |
1 0 |
3.5.3.1 | arginase deficiency |
20456883 |
A long-term survival case of arginase deficiency with severe multicystic white matter and compound mutations. |
diagnostic usage unassigned |
1 0 |
3.5.3.1 | arginase deficiency |
21229317 |
Neonatal cholestasis: an uncommon presentation of hyperargininemia. |
causal interaction therapeutic application unassigned |
3 3 0 |
3.5.3.1 | arginase deficiency |
21585399 |
Arginase-1-expressing macrophages are dispensable for resistance to infection with the gastrointestinal helminth Trichuris muris. |
ongoing research unassigned |
3 0 |
3.5.3.1 | arginase deficiency |
21802329 |
Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported? |
causal interaction unassigned |
3 0 |
3.5.3.1 | arginase deficiency |
22760543 |
Long-term Survival of the Juvenile Lethal Arginase-deficient Mouse With AAV Gene Therapy. |
causal interaction ongoing research therapeutic application unassigned |
3 1 4 0 |
3.5.3.1 | arginase deficiency |
22964440 |
Arginase deficiency with new phenotype and a novel mutation: contemporary summary. |
causal interaction diagnostic usage ongoing research unassigned |
4 2 2 0 |
3.5.3.1 | arginase deficiency |
22971419 |
Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency. |
causal interaction ongoing research therapeutic application unassigned |
1 2 2 0 |
3.5.3.1 | arginase deficiency |
23388701 |
AAV-based gene therapy prevents neuropathology and results in normal cognitive development in the hyperargininemic mouse. |
causal interaction unassigned |
1 0 |
3.5.3.1 | arginase deficiency |
23859858 |
Five novel mutations in ARG1 gene in Chinese patients of argininemia. |
causal interaction unassigned |
3 0 |
3.5.3.1 | arginase deficiency |
23920045 |
Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse. |
causal interaction diagnostic usage ongoing research therapeutic application |
4 3 1 1 |
3.5.3.1 | arginase deficiency |
24224027 |
Inducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolism. |
causal interaction ongoing research unassigned |
4 3 0 |
3.5.3.1 | arginase deficiency |
24465919 |
Arginase-1 Deficiency Regulates Arginine Concentrations and NOS2-Mediated NO Production during Endotoxemia. |
therapeutic application unassigned |
1 0 |
3.5.3.1 | arginase deficiency |
24814679 |
Treatment of arginase deficiency revisited: guanidinoacetate as a therapeutic target and biomarker for therapeutic monitoring. |
causal interaction therapeutic application unassigned |
4 4 0 |
3.5.3.1 | arginase deficiency |
24888478 |
Myocyte-mediated Arginase Expression Controls Hyperargininemia but not Hyperammonemia in Arginase-deficient Mice. |
causal interaction ongoing research unassigned |
2 2 0 |
3.5.3.1 | arginase deficiency |
25474440 |
Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy. |
causal interaction therapeutic application unassigned |
4 4 0 |
3.5.3.1 | arginase deficiency |
25611620 |
Anesthetic management of a patient with arginase deficiency undergoing liver transplantation. |
therapeutic application unassigned |
1 0 |
3.5.3.1 | arginase deficiency |
25938595 |
Strategies to rescue the consequences of inducible arginase-1 deficiency in mice. |
causal interaction therapeutic application unassigned |
4 1 0 |
3.5.3.1 | arginase deficiency |
26123990 |
Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature. |
causal interaction therapeutic application unassigned |
4 1 0 |
3.5.3.1 | arginase deficiency |
26310552 |
[Seven patients of argininemia with spastic tetraplegia as the first and major symptom and prenatal diagnosis of two fetuses with high risk]. |
unassigned |
0 |
3.5.3.1 | arginase deficiency |
26358771 |
Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. |
causal interaction diagnostic usage ongoing research therapeutic application |
4 4 4 4 |
3.5.3.1 | arginase deficiency |
26467175 |
Arginase-1 deficiency. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
27038030 |
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. |
causal interaction diagnostic usage therapeutic application unassigned |
4 3 1 0 |
3.5.3.1 | arginase deficiency |
27215558 |
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
27335400 |
Rescue of the Functional Alterations of Motor Cortical Circuits in Arginase Deficiency by Neonatal Gene Therapy. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
27570396 |
Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity. |
therapeutic application unassigned |
1 0 |
3.5.3.1 | arginase deficiency |
27663197 |
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study. |
causal interaction unassigned |
2 0 |
3.5.3.1 | arginase deficiency |
27761413 |
Liver-specific knockout of arginase-1 leads to a profound phenotype similar to inducible whole body arginase-1 deficiency. |
causal interaction diagnostic usage unassigned |
2 3 0 |
3.5.3.1 | arginase deficiency |
27898091 |
Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells. |
causal interaction therapeutic application unassigned |
2 1 0 |
3.5.3.1 | arginase deficiency |
27998825 |
Hematopoietic arginase 1 deficiency results in decreased leukocytosis and increased foam cell formation but does not affect atherosclerosis. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
28515179 |
Arginase-2 mediates renal ischemia-reperfusion injury. |
causal interaction ongoing research unassigned |
1 4 0 |
3.5.3.1 | arginase deficiency |
28566761 |
Proof-of-Concept Gene Editing for the Murine Model of Inducible Arginase-1 Deficiency. |
causal interaction therapeutic application unassigned |
4 1 0 |
3.5.3.1 | arginase deficiency |
28659245 |
Newborn screening for hyperargininemia due to arginase 1 deficiency. |
causal interaction diagnostic usage unassigned |
4 1 0 |
3.5.3.1 | arginase deficiency |
28747341 |
Arginase1 Deficiency in Monocytes/Macrophages Upregulates Inducible Nitric Oxide Synthase To Promote Cutaneous Contact Hypersensitivity. |
causal interaction ongoing research unassigned |
4 4 0 |
3.5.3.1 | arginase deficiency |
29187023 |
Biopsy-proven Hepatocellular Carcinoma in a 53-year-old Woman With Arginase Deficiency. |
causal interaction therapeutic application unassigned |
2 1 0 |
3.5.3.1 | arginase deficiency |
29423830 |
Biochemical markers and neuropsychological functioning in distal urea cycle disorders. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
29478971 |
Kidney Mass Reduction Leads to l-Arginine Metabolism-Dependent Blood Pressure Increase in Mice. |
causal interaction diagnostic usage unassigned |
1 3 0 |
3.5.3.1 | arginase deficiency |
29724658 |
Human hepatocyte transplantation corrects the inherited metabolic liver disorder arginase deficiency in mice. |
causal interaction ongoing research therapeutic application unassigned |
3 4 4 0 |
3.5.3.1 | arginase deficiency |
29948653 |
Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
29961498 |
"Cerebral Palsy" in a Patient With Arginase Deficiency. |
causal interaction diagnostic usage unassigned |
3 4 0 |
3.5.3.1 | arginase deficiency |
30294546 |
The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine. |
therapeutic application unassigned |
1 0 |
3.5.3.1 | arginase deficiency |
30670878 |
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. |
causal interaction diagnostic usage unassigned |
4 3 0 |
3.5.3.1 | arginase deficiency |
30671984 |
A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
31484827 |
Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development. |
causal interaction ongoing research therapeutic application unassigned |
4 1 1 0 |
3.5.3.1 | arginase deficiency |
31501335 |
Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency. |
causal interaction therapeutic application unassigned |
4 4 0 |
3.5.3.1 | arginase deficiency |
31604595 |
Sodium phenylbutyrate improved the clinical state in an adult patient with arginase 1 deficiency. |
causal interaction diagnostic usage unassigned |
2 1 0 |
3.5.3.1 | arginase deficiency |
31649772 |
Arginase Deficiency Presenting as Acute Encephalopathy. |
causal interaction diagnostic usage ongoing research therapeutic application |
3 2 3 1 |
3.5.3.1 | arginase deficiency |
32025996 |
Anesthetic management of a pediatric patient with arginase-1 deficiency undergoing strabismus operation: a case report. |
causal interaction therapeutic application unassigned |
4 1 0 |
3.5.3.1 | arginase deficiency |
32580855 |
Hyperargininemic Encephalopathy with Unique Clinical Presentation and Novel Genetic Mutations. |
causal interaction ongoing research unassigned |
4 1 0 |
3.5.3.1 | arginase deficiency |
32769929 |
A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia: A case report. |
causal interaction therapeutic application unassigned |
4 1 0 |
3.5.3.1 | arginase deficiency |
32872442 |
Metabolic Serendipities of Expanded Newborn Screening. |
causal interaction unassigned |
3 0 |
3.5.3.1 | arginase deficiency |
33325055 |
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency. |
causal interaction unassigned |
4 0 |
3.5.3.1 | arginase deficiency |
33542202 |
Novel ARG1 variants identified in a patient with arginase 1 deficiency. |
causal interaction unassigned |
1 0 |