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Disease on EC 6.3.4.16 - carbamoyl-phosphate synthase (ammonia)

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Abscess
Genes Contributing to Porphyromonas gingivalis Fitness in Abscess and Epithelial Cell Colonization Environments.
Adenocarcinoma
Expression profiling of CPS1 in Correa's cascade and its association with gastric cancer prognosis.
Loss of carbamoyl phosphate synthetase I in small-intestinal adenocarcinoma.
Adenocarcinoma of Lung
Cigarette smoking and changes in the histopathology of lung cancer.
Alkalosis
Metabolic alkalosis as driving force for urea synthesis in liver disease: pathogenetic model and therapeutic implications.
amino-acid n-acetyltransferase deficiency
ECMO as a Platform for Rapid Ammonia Removal in a Neonate with Multienzyme Urea Cycle Disorder.
Genetic approach to prenatal diagnosis in urea cycle defects.
N-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects.
Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Anemia
Castleman disease in a pediatric liver transplant recipient: A case report and literature review.
arginase deficiency
Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment.
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study.
Genetic approach to prenatal diagnosis in urea cycle defects.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan.
argininosuccinate lyase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Population screening in a Druze community: the challenge and the reward.
Prospective treatment of urea cycle disorders.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
argininosuccinate synthase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Prospective treatment of urea cycle disorders.
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan.
Argininosuccinic Aciduria
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
Genetic approach to prenatal diagnosis in urea cycle defects.
Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Population screening in a Druze community: the challenge and the reward.
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.
Prospective treatment of urea cycle disorders.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Asthma
Hay Fever and Asthma as Markers of Atopic Immune Response and Risk of Colorectal Cancer in Three Large Cohort Studies.
Ataxia
Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.
beta-ureidopropionase deficiency
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
Blindness, Cortical
Extrapontine myelinolysis resulting in transient cortical blindness.
Brain Diseases
Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.
Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy.
Clinical features of carbamyl phosphate synthetase-I deficiency in an adult.
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Sarbamoyl Shosphate Synthetase 1 Deficiency.
Brain Diseases, Metabolic
Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency.
Brain Edema
Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy.
Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.
[Cerebral edema with hyperammonemia in valpromide poisoning. Manifestation in an adult, of a partial deficit in type I carbamylphosphate synthetase]
carbamoyl-phosphate synthase (ammonia) deficiency
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
A carbamylphosphate synthetase deficiency with no detectable immunoreactive enzyme and no translatable mRNA.
A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age.
A case of carbamylphosphate synthetase-I deficiency associated with secondary carnitine deficiency--L-carnitine treatment of CPS-I deficiency.
A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia.
A lethal neonatal variant of carbamoyl-phosphate synthetase deficiency in combination with an intermediate activity of L-ornithine: 2-oxoglutarate amino-transferase.
Ammonia detoxification by continuous venovenous haemofiltration in an infant with urea cycle defect.
Aspergillosis of the CNS in a pediatric liver transplant recipient: case report and review.
Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.
Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.
Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis.
Carbamoylphosphate synthetase deficiency in an adult: deterioration due to administration of valproic acid.
Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy.
Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome.
Carbamyl phosphate synthetase I deficiency with no detectable mRNA activity.
Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.
Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.
Citrulline Administration for Urea Cycle Disorders in Japan.
Clinical and laboratory study in 22 patients with inherited hyperammonemic syndromes.
Clinical features of carbamyl phosphate synthetase-I deficiency in an adult.
Cognitive functioning in two sisters with carbamyl phosphate synthetase I deficiency.
Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
Domino liver transplantation for select metabolic disorders: Expanding the living donor pool.
Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment.
Extrapontine myelinolysis resulting in transient cortical blindness.
Fetal liver biopsy for prenatal diagnosis of carbamoyl phosphate synthetase deficiency.
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).
Genetic analysis of carbamyl phosphate synthetase I deficiency.
Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.
Hemodialysis catheter placement and recirculation in treatment of hyperammonemia.
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
Immunochemical analysis of carbamyl phosphate synthetase I and ornithine transcarbamylase deficient livers: elevated N-acetylglutamate level in a liver lacking carbamyl phosphate synthetase protein.
Increased excretion of N-carbamoyl compounds in patients with urea cycle defects.
Is there any relationship between mutation in CPS1 Gene and pregnancy loss?
Late clinical presentation of partial carbamyl phosphate synthetase I deficiency.
Late onset carbamoyl-phosphate synthetase 1 deficiency in an adult cured by liver transplantation.
Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism.
Liver fibrosis in carbamoylphosphate synthetase deficiency.
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
Liver ultrastructure in mitochondrial urea cycle enzyme deficiencies and comparison with Reye's syndrome.
Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency.
Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency.
Loss of Hep Par 1 immunoreactivity in the livers of patients with carbamoyl phosphate synthetase 1 deficiency.
Mice deficient in the urea-cycle enzyme, carbamoyl phosphate synthetase I, die during the early neonatal period from hyperammonemia.
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.
Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency.
Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.
N-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects.
Neonatal ECMO for Cardiopulmonary Failure Due to Carbamoyl Phosphate Synthetase I Deficiency.
Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report.
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency.
Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.
Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature.
Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria.
Persistent acitrullinemia after liver transplantation for carbamylphosphate synthetase deficiency.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Population screening in a Druze community: the challenge and the reward.
Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.
Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency.
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
Prenatal diagnosis of carbamoyl-phosphate synthetase deficiency by fetal liver biopsy.
Prospective treatment of urea cycle disorders.
Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan.
Severe liver fibrosis in argininosuccinic aciduria.
Short-term survival of hyperammonemic neonates treated with dialysis.
Siblings with carbamyl phosphate synthetase I deficiency.
Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.
Successful treatment of severe carbamyl phosphate synthetase I deficiency.
Survival after early treatment for carbamyl phosphate synthetase (CPS) I deficiency associated with increase of intramitochondrial CPS I.
Sustained Virologic Remission in an 8-Month-Old Pediatric Patient with Carbamoyl Phosphate Synthetase I Deficiency and Hepatitis C Infection Using Direct Acting Antivirals Prior to Liver Transplant.
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
Teaching NeuroImages: MRI findings in carbamoyl phosphate synthetase 1 deficiency.
The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients.
The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.
The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.
Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase deficiency.
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy.
Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function.
Understanding carbamoyl phosphate synthetase deficiency: impact of clinical mutations on enzyme functionality.
Understanding N-acetyl-L-glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism.
[A case of late-onset carbamoyl phosphate synthetase I deficiency, presenting periodic psychotic episodes coinciding with menstrual periods]
[Carbamoyl phosphate synthetase I deficiency]
[Carbamyl phosphate synthetase I deficiency]
[Comments on the contribution, Therapy of hyperammonemia in carbamylphosphate synthetase deficiency with peritoneal dialysis and venovenous hemofiltration, by B. Lettgen et al.]
[Constitutional hyperammonemia with carbamoylphosphate synthetase deficiency. Course treatment during dietetic]
[Detection of CPS1 gene mutation in a neonate with carbamoyl phosphate synthetase I deficiency].
[Late-onset presentation of carbamoyl phosphate synthetase 1 deficiency in a 6-year-old boy]
Carbamoyl-Phosphate Synthase I Deficiency Disease
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.
Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis.
Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome.
Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.
Citrulline Administration for Urea Cycle Disorders in Japan.
Neonatal ECMO for Cardiopulmonary Failure Due to Carbamoyl Phosphate Synthetase I Deficiency.
Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report.
Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency.
Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Siblings with carbamyl phosphate synthetase I deficiency.
Survival after early treatment for carbamyl phosphate synthetase (CPS) I deficiency associated with increase of intramitochondrial CPS I.
Sustained Virologic Remission in an 8-Month-Old Pediatric Patient with Carbamoyl Phosphate Synthetase I Deficiency and Hepatitis C Infection Using Direct Acting Antivirals Prior to Liver Transplant.
[A case of late-onset carbamoyl phosphate synthetase I deficiency, presenting periodic psychotic episodes coinciding with menstrual periods]
[Carbamoyl phosphate synthetase I deficiency]
[Detection of CPS1 gene mutation in a neonate with carbamoyl phosphate synthetase I deficiency].
carbonic anhydrase deficiency
Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood.
Carcinogenesis
Deamidation Shunts RelA from Mediating Inflammation to Aerobic Glycolysis.
Discovery of a CPS1-deficient HCC subtype with therapeutic potential via integrative genomic and experimental analysis.
Functional analysis of the CPS I upstream sequences with a cat assay.
The immunohistochemistry and in situ cDNA-mRNA hybridization of carbamyl phosphate synthetase I in enzyme-altered liver cells during carcinogenesis.
[An immunohistochemical and in situ hybridization study of carbamyl phosphate synthetase I in altered liver cells during carcinogenesis]
[Functional analysis of the CPS I upstream sequences with a CAT assay]
[Mechanism of carcinogenesis. VII. Biosynthesis of carbamyl phosphate synthetase I in vivo and in vitro in hepatocellular carcinoma and liver of rats fed with diethylnitrosamine]
Carcinoma
Carbamyl phosphate synthetase I. A novel marker for gastric carcinoma.
Inactivation by acivicin of carbamoyl-phosphate synthetase II of human colon carcinoma.
[Mechanism of carcinogenesis. VII. Biosynthesis of carbamyl phosphate synthetase I in vivo and in vitro in hepatocellular carcinoma and liver of rats fed with diethylnitrosamine]
Carcinoma, Hepatocellular
Arginine synthesis by hepatomas in vitro. II. Isolation and characterization of Morris hepatoma variants unable to convert ornithine to arginine, and modulation of urea-cycle enzymes by dexamethasone and cyclic-AMP.
BWTG3 hepatoma cells can acquire phenylalanine hydroxylase, cystathionine synthase and CPS-I without genetic manipulation, but activation of the silent OTC gene requires cell fusion with hepatocytes.
Carbamyl phosphate synthetases in rat liver neoplasms.
Detection of circulating tumor cells in hepatocellular carcinoma using antibodies against asialoglycoprotein receptor, carbamoyl phosphate synthetase 1 and pan-cytokeratin.
DNA methylation suppresses expression of the urea cycle enzyme carbamoyl phosphate synthetase 1 (CPS1) in human hepatocellular carcinoma.
Expression of carbamoyl-phosphate synthetase I mRNA in Reuber hepatoma H-35 cells. Regulation by glucocorticoid and insulin.
Functional analysis of the CPS I upstream sequences with a cat assay.
Generation of carbamoyl phosphate synthetase 1 reporter cell lines for the assessment of ammonia metabolism.
Hepatocyte-specific interplay of transcription factors at the far-upstream enhancer of the carbamoylphosphate synthetase gene upon glucocorticoid induction.
Hormonal regulation of carbamoyl-phosphate synthetase I synthesis in primary cultured hepatocytes and Reuber hepatoma H-35. Defective regulation in hepatoma cells.
Immunocytochemical and dot blot analysis of gene expression of carbamyl phosphate synthetase I in human liver and hepatoma.
In vivo inactivation by acivicin of carbamoyl-phosphate synthetase II in rat hepatoma.
Increased carbamoyl-phosphate synthetase II concentration in rat hepatomas: immunological evidence.
Induction of carbamoyl-phosphate synthetase I in Reuber hepatoma H-35 by dexamethasone.
Interaction between glucocorticoids, 8-bromoadenosine 3',5'-monophosphate, and insulin in regulation of synthesis of carbamoyl-phosphate synthetase I in Reuber hepatoma H-35.
Monovalent carboxylic ionophores inhibit transport of carbamoyl-phosphate synthetase I into mitochondria in Reuber hepatoma H-35 cells and cause accumulation of enzyme precursor.
Multi-enzyme-targeted chemotherapy by acivicin and actinomycin.
Oncolytic activity and mechanism of action of a novel L-cysteine derivative, L-cysteine, ethyl ester, S-(N-methylcarbamate) monohydrochloride.
Phosphorylation and dephosphorylation of carbamoyl-phosphate synthetase II complex of rat ascites hepatoma cells.
Rapid in vivo inactivation by acivicin of CTP synthetase, carbamoyl-phosphate synthetase II, and amidophosphoribosyltransferase in hepatoma.
Regulatory properties and behavior of activity of carbamoyl phosphate synthetase II (glutamine-hydrolyzing) in normal and proliferating tissues.
The far-upstream enhancer of the carbamoyl-phosphate synthetase I gene is responsible for the tissue specificity and hormone inducibility of its expression.
Transport of proteins into hepatic and nonhepatic mitochondria: specificity of uptake and processing of precursor forms of carbamoyl-phosphate synthetase I.
[Expression of cellular oncogenes in human hepatocellular carcinoma cell line BEL 7402 and the effect of sodium butyrate on the expression of cellular oncogenes]
[Functional analysis of the CPS I upstream sequences with a CAT assay]
[Mechanism of carcinogenesis. VII. Biosynthesis of carbamyl phosphate synthetase I in vivo and in vitro in hepatocellular carcinoma and liver of rats fed with diethylnitrosamine]
Carcinoma, Non-Small-Cell Lung
Discovery of 2,6-Dimethylpiperazines as Allosteric Inhibitors of CPS1.
Cholestasis, Intrahepatic
[Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].
Citrullinemia
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
Genetic approach to prenatal diagnosis in urea cycle defects.
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Molecular diagnosis of urea cycle disorders: current global scenario.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Prospective treatment of urea cycle disorders.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan.
[Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].
Cleft Palate
Restriction fragment length polymorphisms, glucocorticoid receptors, and phenytoin-induced cleft palate in congenic strains of mice with steroid susceptibility differences.
Colorectal Neoplasms
Hay Fever and Asthma as Markers of Atopic Immune Response and Risk of Colorectal Cancer in Three Large Cohort Studies.
Coma
A carbamylphosphate synthetase deficiency with no detectable immunoreactive enzyme and no translatable mRNA.
Genetic analysis of carbamyl phosphate synthetase I deficiency.
Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing.
Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.
Prospective treatment of urea cycle disorders.
Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.
Confusion
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
Coronary Disease
Two large prospective studies of mortality among men who use snuff or chewing tobacco (United States).
Cystic Fibrosis
Timing and sequence of differentiation of embryonic rat hepatocytes along the biliary epithelial lineage.
Ehlers-Danlos Syndrome
Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism.
Encephalomalacia
Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy.
Endocarditis
Clonal structure of Streptococcus sanguinis strains isolated from endocarditis cases and the oral cavity.
Enterocolitis, Necrotizing
Association between the p.Thr1406Asn polymorphism of the carbamoyl-phosphate synthetase 1 gene and necrotizing enterocolitis: A prospective multicenter study.
Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis.
Fatty Liver
Involvement of a cis-acting element in the suppression of carbamoyl phosphate synthetase I gene expression in the liver of carnitine-deficient mice.
Long-chain fatty acids suppress the induction of urea cycle enzyme genes by glucocorticoid action.
Gastroenteritis
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study.
Genetic Diseases, Inborn
Is there any relationship between mutation in CPS1 Gene and pregnancy loss?
Heart Defects, Congenital
Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study.
Hepatic Encephalopathy
[The relationship of CPS-I, OCT and hepatic encephalopathy.].
Hepatitis
Enzyme-linked immunosorbent assay of carbamoylphosphate synthetase I: plasma enzyme in rat experimental hepatitis and its clearance.
Hepatitis C
Sustained Virologic Remission in an 8-Month-Old Pediatric Patient with Carbamoyl Phosphate Synthetase I Deficiency and Hepatitis C Infection Using Direct Acting Antivirals Prior to Liver Transplant.
Hepatitis C, Chronic
Carbamoyl phosphate synthetase 1 (CPS1) as a prognostic marker in chronic hepatitis C infection.
Homocystinuria
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
Hyperargininemia
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study.
Genetic approach to prenatal diagnosis in urea cycle defects.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Molecular diagnosis of urea cycle disorders: current global scenario.
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
[Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].
Hypersensitivity
Hepatocyte-specific interplay of transcription factors at the far-upstream enhancer of the carbamoylphosphate synthetase gene upon glucocorticoid induction.
Hypertension
S 35171 exerts protective effects in spontaneously hypertensive stroke-prone rats by preserving mitochondrial function.
Hypertension, Pulmonary
Association between genetic variations in carbamoyl-phosphate synthetase gene and persistent neonatal pulmonary hypertension.
Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.
Hypoglycemia
Genomic organization of the human gene (CA5) and pseudogene for mitochondrial carbonic anhydrase V and their localization to chromosomes 16q and 16p.
Infections
Aspergillosis of the CNS in a pediatric liver transplant recipient: case report and review.
Burkholderia pseudomallei Capsule Exacerbates Respiratory Melioidosis but Does Not Afford Protection against Antimicrobial Signaling or Bacterial Killing in Human Olfactory Ensheathing Cells.
Carbamoyl phosphate synthetase 1 (CPS1) as a prognostic marker in chronic hepatitis C infection.
Genes Contributing to Porphyromonas gingivalis Fitness in Abscess and Epithelial Cell Colonization Environments.
Interactions Between Meloidogyne artiellia, the Cereal and Legume Root-Knot Nematode, and Fusarium oxysporum f. sp. ciceris Race 5 in Chickpea.
Interactions between Meloidogyne artiellia, the cereal and legume root-knot nematode, and Fusarium oxysporum f. sp. ciceris race 5 in chickpea.
Status of urea and related enzymes during Plasmodium yoelii infection and pyrimethamine treatment in mice.
Sustained Virologic Remission in an 8-Month-Old Pediatric Patient with Carbamoyl Phosphate Synthetase I Deficiency and Hepatitis C Infection Using Direct Acting Antivirals Prior to Liver Transplant.
Intellectual Disability
The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.
Lethargy
Biallelic mutations in carbamoyl phosphate synthetase 1 induced hyperammonemia in a neonate: A case report.
Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.
Liver Cirrhosis
Liver fibrosis in carbamoylphosphate synthetase deficiency.
Severe liver fibrosis in argininosuccinic aciduria.
Liver Diseases
Enzyme-linked immunosorbent assay of carbamoylphosphate synthetase I: plasma enzyme in rat experimental hepatitis and its clearance.
Liver Neoplasms
Carbamyl phosphate synthetases in rat liver neoplasms.
Liver Neoplasms, Experimental
Carbamyl phosphate synthetases in rat liver neoplasms.
Regulation and expression of carbamyl phosphate synthetase I mRNA in developing rat liver and Morris hepatoma 5123D.
Transport of proteins into hepatic and nonhepatic mitochondria: specificity of uptake and processing of precursor forms of carbamoyl-phosphate synthetase I.
Lung Neoplasms
Chapter 10: A Macro-Model of Smoking and Lung Cancer: Examining Aggregate Trends in Lung Cancer Rates Using the CPS-I and CPS-II and Two-Stage Clonal Expansion Models.
Discovery of 2,6-Dimethylpiperazines as Allosteric Inhibitors of CPS1.
Incremental lifetime cancer risks computed for benzo[a]pyrene and two tobacco-specific N-nitrosamines in mainstream cigarette smoke compared with lung cancer risks derived from epidemiologic data.
Lung cancer mortality is related to age in addition to duration and intensity of cigarette smoking: an analysis of CPS-I data.
The change in excess risk of lung cancer attributable to smoking following smoking cessation: an examination of different analytic approaches using CPS-I data.
Maple Syrup Urine Disease
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
[Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].
Melanoma
Inhibition of p70 S6 kinase (S6K1) activity by A77 1726 and its effect on cell proliferation and cell cycle progress.
Metabolic Diseases
Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.
Late clinical presentation of partial carbamyl phosphate synthetase I deficiency.
Metabolism, Inborn Errors
Population screening in a Druze community: the challenge and the reward.
methionine adenosyltransferase deficiency
[Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].
Muscle Hypotonia
A carbamylphosphate synthetase deficiency with no detectable immunoreactive enzyme and no translatable mRNA.
Myelinolysis, Central Pontine
Extrapontine myelinolysis resulting in transient cortical blindness.
Neoplasms
A Promising CPS1 Inhibitor Keeping Ammonia from Fueling Cancer.
Carbamyl phosphate synthetases in rat liver neoplasms.
Carbonic anhydrase inhibitors: aromatic sulfonamides and disulfonamides act as efficient tumor growth inhibitors.
Chapter 8: The FHCRC Lung Cancer Model.
Control of pyrimidine biosynthesis in mammalian tissues. II. Glutamine-utilizing carbamoyl phosphate synthetase of various experimental tumors: distribution, purification and characterization.
Critical importance of the de novo pyrimidine biosynthesis pathway for Trypanosoma cruzi growth in the mammalian host cell cytoplasm.
Deamidation Shunts RelA from Mediating Inflammation to Aerobic Glycolysis.
Detection of circulating tumor cells in hepatocellular carcinoma using antibodies against asialoglycoprotein receptor, carbamoyl phosphate synthetase 1 and pan-cytokeratin.
Effect of high-protein diet on pyrimidine synthesis and response to PALA in mouse tissues.
Expression and clinical significance of CPS1 in glioblastoma multiforme.
Hepatocyte Antigen Expression in Barrett Esophagus and Associated Neoplasia.
LncRNA CPS1-IT1 serves as anti-oncogenic role in glioma.
Oncolytic activity and mechanism of action of a novel L-cysteine derivative, L-cysteine, ethyl ester, S-(N-methylcarbamate) monohydrochloride.
The change in excess risk of lung cancer attributable to smoking following smoking cessation: an examination of different analytic approaches using CPS-I data.
The limits of competing interest disclosures.
Transport of proteins into hepatic and nonhepatic mitochondria: specificity of uptake and processing of precursor forms of carbamoyl-phosphate synthetase I.
Two large prospective studies of mortality among men who use snuff or chewing tobacco (United States).
[An immunohistochemical and in situ hybridization study of carbamyl phosphate synthetase I in altered liver cells during carcinogenesis]
Neoplastic Cells, Circulating
Detection of circulating tumor cells in hepatocellular carcinoma using antibodies against asialoglycoprotein receptor, carbamoyl phosphate synthetase 1 and pan-cytokeratin.
Neurologic Manifestations
Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy.
Neuronal Ceroid-Lipofuscinoses
N-acetylcysteine normalizes the urea cycle and DNA repair in cells from patients with Batten disease.
Non-alcoholic Fatty Liver Disease
Mitochondrial dysfunction as a mechanistic biomarker in patients with non-alcoholic fatty liver disease (NAFLD).
Non-alcoholic fatty liver disease alters expression of genes governing hepatic nitrogen conversion.
ornithine carbamoyltransferase deficiency
Citrulline Administration for Urea Cycle Disorders in Japan.
Clinical and laboratory study in 22 patients with inherited hyperammonemic syndromes.
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.
Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).
Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.
Genetic approach to prenatal diagnosis in urea cycle defects.
Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study.
Immunochemical analysis of carbamyl phosphate synthetase I and ornithine transcarbamylase deficient livers: elevated N-acetylglutamate level in a liver lacking carbamyl phosphate synthetase protein.
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Prospective treatment of urea cycle disorders.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan.
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
The activity of carbamoyl-phosphate synthetase I and ornithine carbamoyltransferase (OCT) in the intestine and screening for OCT deficiency in the rectal mucosa.
The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients.
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism.
Ornithine Carbamoyltransferase Deficiency Disease
Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia.
Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome.
Citrulline Administration for Urea Cycle Disorders in Japan.
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.
Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).
Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.
Genetic approach to prenatal diagnosis in urea cycle defects.
Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study.
Immunochemical analysis of carbamyl phosphate synthetase I and ornithine transcarbamylase deficient livers: elevated N-acetylglutamate level in a liver lacking carbamyl phosphate synthetase protein.
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Molecular aspects of urea cycle enzymes and related disorders.
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Prospective treatment of urea cycle disorders.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan.
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients.
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism.
pantoate-beta-alanine ligase (amp-forming) deficiency
Ammonia detoxification by continuous venovenous haemofiltration in an infant with urea cycle defect.
Aspergillosis of the CNS in a pediatric liver transplant recipient: case report and review.
Clinical and laboratory study in 22 patients with inherited hyperammonemic syndromes.
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
Domino liver transplantation for select metabolic disorders: Expanding the living donor pool.
Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment.
Extrapontine myelinolysis resulting in transient cortical blindness.
Fetal liver biopsy for prenatal diagnosis of carbamoyl phosphate synthetase deficiency.
Hemodialysis catheter placement and recirculation in treatment of hyperammonemia.
Prospective treatment of urea cycle disorders.
Short-term survival of hyperammonemic neonates treated with dialysis.
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
Understanding carbamoyl phosphate synthetase deficiency: impact of clinical mutations on enzyme functionality.
Perinatal Death
The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.
Phenylketonurias
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
[Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].
Prolidase Deficiency
Population screening in a Druze community: the challenge and the reward.
Propionic Acidemia
Domino liver transplantation for select metabolic disorders: Expanding the living donor pool.
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
Prostatic Neoplasms
Body mass index, height, and prostate cancer mortality in two large cohorts of adult men in the United States.
Jewish ethnicity and prostate cancer mortality in two large US cohorts.
Pulmonary Disease, Chronic Obstructive
Workshop discussion panel. III: Implications of the changing tobacco-related mortality from COPD in the CPS-1 and CPS-2 surveys.
Rectal Neoplasms
Overexpression of CPS1 is an independent negative prognosticator in rectal cancers receiving concurrent chemoradiotherapy.
Reye Syndrome
Liver ultrastructure in mitochondrial urea cycle enzyme deficiencies and comparison with Reye's syndrome.
Rhinitis, Allergic, Seasonal
Hay Fever and Asthma as Markers of Atopic Immune Response and Risk of Colorectal Cancer in Three Large Cohort Studies.
Rickets
Immunological evidence for a carbamylphosphate synthetase lesion resulting in the formation of enzyme with altered sub-unit size.
Seizures
A carbamylphosphate synthetase deficiency with no detectable immunoreactive enzyme and no translatable mRNA.
Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy.
Immunological evidence for a carbamylphosphate synthetase lesion resulting in the formation of enzyme with altered sub-unit size.
The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Sarbamoyl Shosphate Synthetase 1 Deficiency.
Sepsis
Carbamoyl phosphate synthase-1: a marker of mitochondrial damage and depletion in the liver during sepsis.
Hepatic glutamine metabolism in the septic rat.
Release of the mitochondrial enzyme carbamoyl phosphate synthase under septic conditions.
Starvation
Dual regulation of the synthesis of the arginine pathway carbamoylphosphate synthase of Saccharomyces cerevisiae by specific and general controls of amino acid biosynthesis.
Effects of phosphate limitation on expression of genes involved in pyrimidine synthesis and salvaging in Arabidopsis.
Involvement of a cis-acting element in the suppression of carbamoyl phosphate synthetase I gene expression in the liver of carnitine-deficient mice.
Regulation of mitochondrial carbamoyl-phosphate synthetase 1 activity by active site fatty acylation.
Stomach Neoplasms
Expression profiling of CPS1 in Correa's cascade and its association with gastric cancer prognosis.
Stroke
Two large prospective studies of mortality among men who use snuff or chewing tobacco (United States).
Teratocarcinoma
Posttranscriptional regulation of the expression of CAD gene during differentiation of F9 teratocarcinoma cells by induction with retinoic acid and dibutyryl cyclic AMP.
Tyrosinemias
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
Urea Cycle Disorders, Inborn
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.
Citrulline Administration for Urea Cycle Disorders in Japan.
Clinical features of carbamyl phosphate synthetase-I deficiency in an adult.
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).
Late clinical presentation of partial carbamyl phosphate synthetase I deficiency.
Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency.
Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.
Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.
Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.
xaa-pro dipeptidase deficiency
Population screening in a Druze community: the challenge and the reward.
Xanthomatosis, Cerebrotendinous
Population screening in a Druze community: the challenge and the reward.