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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.
Adenocarcinoma
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.
amino-acid n-acetyltransferase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
amino-acid n-acetyltransferase deficiency
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.
amino-acid n-acetyltransferase deficiency
Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
amino-acid n-acetyltransferase deficiency
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.
arginase deficiency
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study.
arginase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
arginase deficiency
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
arginase deficiency
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
arginase deficiency
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.
arginase deficiency
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.
argininosuccinate lyase deficiency
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
argininosuccinate lyase deficiency
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
argininosuccinate lyase deficiency
Population screening in a Druze community: the challenge and the reward.
argininosuccinate lyase deficiency
Prospective treatment of urea cycle disorders.
argininosuccinate lyase deficiency
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.
argininosuccinate synthase deficiency
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
argininosuccinate synthase deficiency
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
argininosuccinate synthase deficiency
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
argininosuccinate synthase deficiency
Prospective treatment of urea cycle disorders.
argininosuccinate synthase deficiency
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan.
Argininosuccinic Aciduria
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Argininosuccinic Aciduria
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
Argininosuccinic Aciduria
Genetic approach to prenatal diagnosis in urea cycle defects.
Argininosuccinic Aciduria
Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study.
Argininosuccinic Aciduria
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Argininosuccinic Aciduria
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Argininosuccinic Aciduria
Population screening in a Druze community: the challenge and the reward.
Argininosuccinic Aciduria
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.
Argininosuccinic Aciduria
Prospective treatment of urea cycle disorders.
Argininosuccinic Aciduria
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.
Brain Diseases
Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy.
Brain Diseases
Clinical features of carbamyl phosphate synthetase-I deficiency in an adult.
Brain Diseases
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
Brain Diseases
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.
Brain Edema
Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.
Brain Edema
[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.
carbamoyl-phosphate synthase (ammonia) deficiency
A carbamylphosphate synthetase deficiency with no detectable immunoreactive enzyme and no translatable mRNA.
carbamoyl-phosphate synthase (ammonia) deficiency
A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age.
carbamoyl-phosphate synthase (ammonia) deficiency
A case of carbamylphosphate synthetase-I deficiency associated with secondary carnitine deficiency--L-carnitine treatment of CPS-I deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia.
carbamoyl-phosphate synthase (ammonia) deficiency
A lethal neonatal variant of carbamoyl-phosphate synthetase deficiency in combination with an intermediate activity of L-ornithine: 2-oxoglutarate amino-transferase.
carbamoyl-phosphate synthase (ammonia) deficiency
Ammonia detoxification by continuous venovenous haemofiltration in an infant with urea cycle defect.
carbamoyl-phosphate synthase (ammonia) deficiency
Aspergillosis of the CNS in a pediatric liver transplant recipient: case report and review.
carbamoyl-phosphate synthase (ammonia) deficiency
Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.
carbamoyl-phosphate synthase (ammonia) deficiency
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.
carbamoyl-phosphate synthase (ammonia) deficiency
Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis.
carbamoyl-phosphate synthase (ammonia) deficiency
Carbamoylphosphate synthetase deficiency in an adult: deterioration due to administration of valproic acid.
carbamoyl-phosphate synthase (ammonia) deficiency
Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy.
carbamoyl-phosphate synthase (ammonia) deficiency
Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome.
carbamoyl-phosphate synthase (ammonia) deficiency
Carbamyl phosphate synthetase I deficiency with no detectable mRNA activity.
carbamoyl-phosphate synthase (ammonia) deficiency
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.
carbamoyl-phosphate synthase (ammonia) deficiency
Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.
carbamoyl-phosphate synthase (ammonia) deficiency
Citrulline Administration for Urea Cycle Disorders in Japan.
carbamoyl-phosphate synthase (ammonia) deficiency
Clinical and laboratory study in 22 patients with inherited hyperammonemic syndromes.
carbamoyl-phosphate synthase (ammonia) deficiency
Clinical features of carbamyl phosphate synthetase-I deficiency in an adult.
carbamoyl-phosphate synthase (ammonia) deficiency
Cognitive functioning in two sisters with carbamyl phosphate synthetase I deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.
carbamoyl-phosphate synthase (ammonia) deficiency
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.
carbamoyl-phosphate synthase (ammonia) deficiency
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
carbamoyl-phosphate synthase (ammonia) deficiency
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
carbamoyl-phosphate synthase (ammonia) deficiency
Domino liver transplantation for select metabolic disorders: Expanding the living donor pool.
carbamoyl-phosphate synthase (ammonia) deficiency
Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment.
carbamoyl-phosphate synthase (ammonia) deficiency
Extrapontine myelinolysis resulting in transient cortical blindness.
carbamoyl-phosphate synthase (ammonia) deficiency
Fetal liver biopsy for prenatal diagnosis of carbamoyl phosphate synthetase deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).
carbamoyl-phosphate synthase (ammonia) deficiency
Genetic analysis of carbamyl phosphate synthetase I deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Hemodialysis catheter placement and recirculation in treatment of hyperammonemia.
carbamoyl-phosphate synthase (ammonia) deficiency
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
carbamoyl-phosphate synthase (ammonia) deficiency
Immunochemical analysis of carbamyl phosphate synthetase I and ornithine transcarbamylase deficient livers: elevated N-acetylglutamate level in a liver lacking carbamyl phosphate synthetase protein.
carbamoyl-phosphate synthase (ammonia) deficiency
Increased excretion of N-carbamoyl compounds in patients with urea cycle defects.
carbamoyl-phosphate synthase (ammonia) deficiency
Is there any relationship between mutation in CPS1 Gene and pregnancy loss?
carbamoyl-phosphate synthase (ammonia) deficiency
Late clinical presentation of partial carbamyl phosphate synthetase I deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Late onset carbamoyl-phosphate synthetase 1 deficiency in an adult cured by liver transplantation.
carbamoyl-phosphate synthase (ammonia) deficiency
Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism.
carbamoyl-phosphate synthase (ammonia) deficiency
Liver fibrosis in carbamoylphosphate synthetase deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
carbamoyl-phosphate synthase (ammonia) deficiency
Liver ultrastructure in mitochondrial urea cycle enzyme deficiencies and comparison with Reye's syndrome.
carbamoyl-phosphate synthase (ammonia) deficiency
Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Loss of Hep Par 1 immunoreactivity in the livers of patients with carbamoyl phosphate synthetase 1 deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Mice deficient in the urea-cycle enzyme, carbamoyl phosphate synthetase I, die during the early neonatal period from hyperammonemia.
carbamoyl-phosphate synthase (ammonia) deficiency
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.
carbamoyl-phosphate synthase (ammonia) deficiency
Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.
carbamoyl-phosphate synthase (ammonia) deficiency
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.
carbamoyl-phosphate synthase (ammonia) deficiency
Neonatal ECMO for Cardiopulmonary Failure Due to Carbamoyl Phosphate Synthetase I Deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report.
carbamoyl-phosphate synthase (ammonia) deficiency
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
carbamoyl-phosphate synthase (ammonia) deficiency
Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature.
carbamoyl-phosphate synthase (ammonia) deficiency
Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.
carbamoyl-phosphate synthase (ammonia) deficiency
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria.
carbamoyl-phosphate synthase (ammonia) deficiency
Persistent acitrullinemia after liver transplantation for carbamylphosphate synthetase deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
carbamoyl-phosphate synthase (ammonia) deficiency
Population screening in a Druze community: the challenge and the reward.
carbamoyl-phosphate synthase (ammonia) deficiency
Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
carbamoyl-phosphate synthase (ammonia) deficiency
Prenatal diagnosis of carbamoyl-phosphate synthetase deficiency by fetal liver biopsy.
carbamoyl-phosphate synthase (ammonia) deficiency
Prospective treatment of urea cycle disorders.
carbamoyl-phosphate synthase (ammonia) deficiency
Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
carbamoyl-phosphate synthase (ammonia) deficiency
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan.
carbamoyl-phosphate synthase (ammonia) deficiency
Severe liver fibrosis in argininosuccinic aciduria.
carbamoyl-phosphate synthase (ammonia) deficiency
Short-term survival of hyperammonemic neonates treated with dialysis.
carbamoyl-phosphate synthase (ammonia) deficiency
Siblings with carbamyl phosphate synthetase I deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.
carbamoyl-phosphate synthase (ammonia) deficiency
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.
carbamoyl-phosphate synthase (ammonia) deficiency
Successful treatment of severe carbamyl phosphate synthetase I deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Survival after early treatment for carbamyl phosphate synthetase (CPS) I deficiency associated with increase of intramitochondrial CPS I.
carbamoyl-phosphate synthase (ammonia) deficiency
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.
carbamoyl-phosphate synthase (ammonia) deficiency
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
carbamoyl-phosphate synthase (ammonia) deficiency
Teaching NeuroImages: MRI findings in carbamoyl phosphate synthetase 1 deficiency.
carbamoyl-phosphate synthase (ammonia) 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.
carbamoyl-phosphate synthase (ammonia) deficiency
The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.
carbamoyl-phosphate synthase (ammonia) deficiency
Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase deficiency.
carbamoyl-phosphate synthase (ammonia) deficiency
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy.
carbamoyl-phosphate synthase (ammonia) deficiency
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.
carbamoyl-phosphate synthase (ammonia) deficiency
Understanding carbamoyl phosphate synthetase deficiency: impact of clinical mutations on enzyme functionality.
carbamoyl-phosphate synthase (ammonia) deficiency
Understanding N-acetyl-L-glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
carbamoyl-phosphate synthase (ammonia) deficiency
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism.
carbamoyl-phosphate synthase (ammonia) deficiency
[A case of late-onset carbamoyl phosphate synthetase I deficiency, presenting periodic psychotic episodes coinciding with menstrual periods]
carbamoyl-phosphate synthase (ammonia) deficiency
[Carbamoyl phosphate synthetase I deficiency]
carbamoyl-phosphate synthase (ammonia) deficiency
[Carbamyl phosphate synthetase I deficiency]
carbamoyl-phosphate synthase (ammonia) deficiency
[Comments on the contribution, Therapy of hyperammonemia in carbamylphosphate synthetase deficiency with peritoneal dialysis and venovenous hemofiltration, by B. Lettgen et al.]
carbamoyl-phosphate synthase (ammonia) deficiency
[Constitutional hyperammonemia with carbamoylphosphate synthetase deficiency. Course treatment during dietetic]
carbamoyl-phosphate synthase (ammonia) deficiency
[Detection of CPS1 gene mutation in a neonate with carbamoyl phosphate synthetase I deficiency].
carbamoyl-phosphate synthase (ammonia) 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.
Carbamoyl-Phosphate Synthase I Deficiency Disease
Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.
Carbamoyl-Phosphate Synthase I Deficiency Disease
Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis.
Carbamoyl-Phosphate Synthase I Deficiency Disease
Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome.
Carbamoyl-Phosphate Synthase I Deficiency Disease
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.
Carbamoyl-Phosphate Synthase I Deficiency Disease
Citrulline Administration for Urea Cycle Disorders in Japan.
Carbamoyl-Phosphate Synthase I Deficiency Disease
Neonatal ECMO for Cardiopulmonary Failure Due to Carbamoyl Phosphate Synthetase I Deficiency.
Carbamoyl-Phosphate Synthase I Deficiency Disease
Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report.
Carbamoyl-Phosphate Synthase I Deficiency Disease
Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency.
Carbamoyl-Phosphate Synthase I Deficiency Disease
Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.
Carbamoyl-Phosphate Synthase I Deficiency Disease
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
Carbamoyl-Phosphate Synthase I Deficiency Disease
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Carbamoyl-Phosphate Synthase I Deficiency Disease
Siblings with carbamyl phosphate synthetase I deficiency.
Carbamoyl-Phosphate Synthase I Deficiency Disease
Survival after early treatment for carbamyl phosphate synthetase (CPS) I deficiency associated with increase of intramitochondrial CPS I.
Carbamoyl-Phosphate Synthase I Deficiency Disease
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.
Carbamoyl-Phosphate Synthase I Deficiency Disease
[A case of late-onset carbamoyl phosphate synthetase I deficiency, presenting periodic psychotic episodes coinciding with menstrual periods]
Carbamoyl-Phosphate Synthase I Deficiency Disease
[Carbamoyl phosphate synthetase I deficiency]
Carbamoyl-Phosphate Synthase I Deficiency Disease
[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.
Carcinogenesis
Discovery of a CPS1-deficient HCC subtype with therapeutic potential via integrative genomic and experimental analysis.
Carcinogenesis
Functional analysis of the CPS I upstream sequences with a cat assay.
Carcinogenesis
The immunohistochemistry and in situ cDNA-mRNA hybridization of carbamyl phosphate synthetase I in enzyme-altered liver cells during carcinogenesis.
Carcinogenesis
[An immunohistochemical and in situ hybridization study of carbamyl phosphate synthetase I in altered liver cells during carcinogenesis]
Carcinogenesis
[Functional analysis of the CPS I upstream sequences with a CAT assay]
Carcinogenesis
[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.
Carcinoma
Inactivation by acivicin of carbamoyl-phosphate synthetase II of human colon carcinoma.
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.
Carcinoma, Hepatocellular
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.
Carcinoma, Hepatocellular
Carbamyl phosphate synthetases in rat liver neoplasms.
Carcinoma, Hepatocellular
Detection of circulating tumor cells in hepatocellular carcinoma using antibodies against asialoglycoprotein receptor, carbamoyl phosphate synthetase 1 and pan-cytokeratin.
Carcinoma, Hepatocellular
DNA methylation suppresses expression of the urea cycle enzyme carbamoyl phosphate synthetase 1 (CPS1) in human hepatocellular carcinoma.
Carcinoma, Hepatocellular
Expression of carbamoyl-phosphate synthetase I mRNA in Reuber hepatoma H-35 cells. Regulation by glucocorticoid and insulin.
Carcinoma, Hepatocellular
Functional analysis of the CPS I upstream sequences with a cat assay.
Carcinoma, Hepatocellular
Generation of carbamoyl phosphate synthetase 1 reporter cell lines for the assessment of ammonia metabolism.
Carcinoma, Hepatocellular
Hepatocyte-specific interplay of transcription factors at the far-upstream enhancer of the carbamoylphosphate synthetase gene upon glucocorticoid induction.
Carcinoma, Hepatocellular
Hormonal regulation of carbamoyl-phosphate synthetase I synthesis in primary cultured hepatocytes and Reuber hepatoma H-35. Defective regulation in hepatoma cells.
Carcinoma, Hepatocellular
Immunocytochemical and dot blot analysis of gene expression of carbamyl phosphate synthetase I in human liver and hepatoma.
Carcinoma, Hepatocellular
In vivo inactivation by acivicin of carbamoyl-phosphate synthetase II in rat hepatoma.
Carcinoma, Hepatocellular
Increased carbamoyl-phosphate synthetase II concentration in rat hepatomas: immunological evidence.
Carcinoma, Hepatocellular
Induction of carbamoyl-phosphate synthetase I in Reuber hepatoma H-35 by dexamethasone.
Carcinoma, Hepatocellular
Interaction between glucocorticoids, 8-bromoadenosine 3',5'-monophosphate, and insulin in regulation of synthesis of carbamoyl-phosphate synthetase I in Reuber hepatoma H-35.
Carcinoma, Hepatocellular
Monovalent carboxylic ionophores inhibit transport of carbamoyl-phosphate synthetase I into mitochondria in Reuber hepatoma H-35 cells and cause accumulation of enzyme precursor.
Carcinoma, Hepatocellular
Multi-enzyme-targeted chemotherapy by acivicin and actinomycin.
Carcinoma, Hepatocellular
Oncolytic activity and mechanism of action of a novel L-cysteine derivative, L-cysteine, ethyl ester, S-(N-methylcarbamate) monohydrochloride.
Carcinoma, Hepatocellular
Phosphorylation and dephosphorylation of carbamoyl-phosphate synthetase II complex of rat ascites hepatoma cells.
Carcinoma, Hepatocellular
Rapid in vivo inactivation by acivicin of CTP synthetase, carbamoyl-phosphate synthetase II, and amidophosphoribosyltransferase in hepatoma.
Carcinoma, Hepatocellular
Regulatory properties and behavior of activity of carbamoyl phosphate synthetase II (glutamine-hydrolyzing) in normal and proliferating tissues.
Carcinoma, Hepatocellular
The far-upstream enhancer of the carbamoyl-phosphate synthetase I gene is responsible for the tissue specificity and hormone inducibility of its expression.
Carcinoma, Hepatocellular
Transport of proteins into hepatic and nonhepatic mitochondria: specificity of uptake and processing of precursor forms of carbamoyl-phosphate synthetase I.
Carcinoma, Hepatocellular
[Expression of cellular oncogenes in human hepatocellular carcinoma cell line BEL 7402 and the effect of sodium butyrate on the expression of cellular oncogenes]
Carcinoma, Hepatocellular
[Functional analysis of the CPS I upstream sequences with a CAT assay]
Carcinoma, Hepatocellular
[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.
Citrullinemia
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
Citrullinemia
Genetic approach to prenatal diagnosis in urea cycle defects.
Citrullinemia
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
Citrullinemia
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Citrullinemia
Molecular diagnosis of urea cycle disorders: current global scenario.
Citrullinemia
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Citrullinemia
Prospective treatment of urea cycle disorders.
Citrullinemia
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Citrullinemia
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan.
Citrullinemia
[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.
Coma
Genetic analysis of carbamyl phosphate synthetase I deficiency.
Coma
Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing.
Coma
Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.
Coma
Prospective treatment of urea cycle disorders.
Coma
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.
Enterocolitis, Necrotizing
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.
Fatty Liver
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.
Hyperargininemia
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
Hyperargininemia
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study.
Hyperargininemia
Genetic approach to prenatal diagnosis in urea cycle defects.
Hyperargininemia
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Hyperargininemia
Molecular diagnosis of urea cycle disorders: current global scenario.
Hyperargininemia
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.
Hyperargininemia
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Hyperargininemia
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
Hyperargininemia
[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.
Hypertension, Pulmonary
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.
Infections
Burkholderia pseudomallei Capsule Exacerbates Respiratory Melioidosis but Does Not Afford Protection against Antimicrobial Signaling or Bacterial Killing in Human Olfactory Ensheathing Cells.
Infections
Carbamoyl phosphate synthetase 1 (CPS1) as a prognostic marker in chronic hepatitis C infection.
Infections
Genes Contributing to Porphyromonas gingivalis Fitness in Abscess and Epithelial Cell Colonization Environments.
Infections
Interactions Between Meloidogyne artiellia, the Cereal and Legume Root-Knot Nematode, and Fusarium oxysporum f. sp. ciceris Race 5 in Chickpea.
Infections
Interactions between Meloidogyne artiellia, the cereal and legume root-knot nematode, and Fusarium oxysporum f. sp. ciceris race 5 in chickpea.
Infections
Status of urea and related enzymes during Plasmodium yoelii infection and pyrimethamine treatment in mice.
Infections
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.
Lethargy
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.
Liver Cirrhosis
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.
Liver Neoplasms, Experimental
Regulation and expression of carbamyl phosphate synthetase I mRNA in developing rat liver and Morris hepatoma 5123D.
Liver Neoplasms, Experimental
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.
Lung Neoplasms
Discovery of 2,6-Dimethylpiperazines as Allosteric Inhibitors of CPS1.
Lung Neoplasms
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 Neoplasms
Lung cancer mortality is related to age in addition to duration and intensity of cigarette smoking: an analysis of CPS-I data.
Lung Neoplasms
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.
Maple Syrup Urine Disease
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
Maple Syrup Urine Disease
[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.
Metabolic Diseases
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.
Neoplasms
Carbamyl phosphate synthetases in rat liver neoplasms.
Neoplasms
Carbonic anhydrase inhibitors: aromatic sulfonamides and disulfonamides act as efficient tumor growth inhibitors.
Neoplasms
Chapter 8: The FHCRC Lung Cancer Model.
Neoplasms
Control of pyrimidine biosynthesis in mammalian tissues. II. Glutamine-utilizing carbamoyl phosphate synthetase of various experimental tumors: distribution, purification and characterization.
Neoplasms
Critical importance of the de novo pyrimidine biosynthesis pathway for Trypanosoma cruzi growth in the mammalian host cell cytoplasm.
Neoplasms
Deamidation Shunts RelA from Mediating Inflammation to Aerobic Glycolysis.
Neoplasms
Detection of circulating tumor cells in hepatocellular carcinoma using antibodies against asialoglycoprotein receptor, carbamoyl phosphate synthetase 1 and pan-cytokeratin.
Neoplasms
Effect of high-protein diet on pyrimidine synthesis and response to PALA in mouse tissues.
Neoplasms
Expression and clinical significance of CPS1 in glioblastoma multiforme.
Neoplasms
Hepatocyte Antigen Expression in Barrett Esophagus and Associated Neoplasia.
Neoplasms
LncRNA CPS1-IT1 serves as anti-oncogenic role in glioma.
Neoplasms
Oncolytic activity and mechanism of action of a novel L-cysteine derivative, L-cysteine, ethyl ester, S-(N-methylcarbamate) monohydrochloride.
Neoplasms
The change in excess risk of lung cancer attributable to smoking following smoking cessation: an examination of different analytic approaches using CPS-I data.
Neoplasms
The limits of competing interest disclosures.
Neoplasms
Transport of proteins into hepatic and nonhepatic mitochondria: specificity of uptake and processing of precursor forms of carbamoyl-phosphate synthetase I.
Neoplasms
Two large prospective studies of mortality among men who use snuff or chewing tobacco (United States).
Neoplasms
[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
Non-alcoholic fatty liver disease alters expression of genes governing hepatic nitrogen conversion.
ornithine carbamoyltransferase deficiency
Citrulline Administration for Urea Cycle Disorders in Japan.
ornithine carbamoyltransferase deficiency
Clinical and laboratory study in 22 patients with inherited hyperammonemic syndromes.
ornithine carbamoyltransferase deficiency
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.
ornithine carbamoyltransferase deficiency
Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.
ornithine carbamoyltransferase deficiency
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.
ornithine carbamoyltransferase deficiency
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
ornithine carbamoyltransferase deficiency
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
ornithine carbamoyltransferase deficiency
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).
ornithine carbamoyltransferase deficiency
Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.
ornithine carbamoyltransferase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
ornithine carbamoyltransferase deficiency
Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study.
ornithine carbamoyltransferase deficiency
Immunochemical analysis of carbamyl phosphate synthetase I and ornithine transcarbamylase deficient livers: elevated N-acetylglutamate level in a liver lacking carbamyl phosphate synthetase protein.
ornithine carbamoyltransferase deficiency
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
ornithine carbamoyltransferase deficiency
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
ornithine carbamoyltransferase deficiency
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
ornithine carbamoyltransferase deficiency
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
ornithine carbamoyltransferase deficiency
Prospective treatment of urea cycle disorders.
ornithine carbamoyltransferase deficiency
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
ornithine carbamoyltransferase deficiency
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan.
ornithine carbamoyltransferase deficiency
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
ornithine carbamoyltransferase deficiency
The activity of carbamoyl-phosphate synthetase I and ornithine carbamoyltransferase (OCT) in the intestine and screening for OCT deficiency in the rectal mucosa.
ornithine carbamoyltransferase 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.
ornithine carbamoyltransferase deficiency
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.
Ornithine Carbamoyltransferase Deficiency Disease
Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome.
Ornithine Carbamoyltransferase Deficiency Disease
Citrulline Administration for Urea Cycle Disorders in Japan.
Ornithine Carbamoyltransferase Deficiency Disease
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.
Ornithine Carbamoyltransferase Deficiency Disease
Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.
Ornithine Carbamoyltransferase Deficiency Disease
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.
Ornithine Carbamoyltransferase Deficiency Disease
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
Ornithine Carbamoyltransferase Deficiency Disease
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
Ornithine Carbamoyltransferase Deficiency Disease
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).
Ornithine Carbamoyltransferase Deficiency Disease
Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.
Ornithine Carbamoyltransferase Deficiency Disease
Genetic approach to prenatal diagnosis in urea cycle defects.
Ornithine Carbamoyltransferase Deficiency Disease
Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study.
Ornithine Carbamoyltransferase Deficiency Disease
Immunochemical analysis of carbamyl phosphate synthetase I and ornithine transcarbamylase deficient livers: elevated N-acetylglutamate level in a liver lacking carbamyl phosphate synthetase protein.
Ornithine Carbamoyltransferase Deficiency Disease
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
Ornithine Carbamoyltransferase Deficiency Disease
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Ornithine Carbamoyltransferase Deficiency Disease
Molecular aspects of urea cycle enzymes and related disorders.
Ornithine Carbamoyltransferase Deficiency Disease
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
Ornithine Carbamoyltransferase Deficiency Disease
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria.
Ornithine Carbamoyltransferase Deficiency Disease
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Ornithine Carbamoyltransferase Deficiency Disease
Prospective treatment of urea cycle disorders.
Ornithine Carbamoyltransferase Deficiency Disease
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Ornithine Carbamoyltransferase Deficiency Disease
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan.
Ornithine Carbamoyltransferase Deficiency Disease
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
Ornithine Carbamoyltransferase Deficiency Disease
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.
Ornithine Carbamoyltransferase Deficiency Disease
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.
pantoate-beta-alanine ligase (amp-forming) deficiency
Aspergillosis of the CNS in a pediatric liver transplant recipient: case report and review.
pantoate-beta-alanine ligase (amp-forming) deficiency
Clinical and laboratory study in 22 patients with inherited hyperammonemic syndromes.
pantoate-beta-alanine ligase (amp-forming) deficiency
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
pantoate-beta-alanine ligase (amp-forming) deficiency
Domino liver transplantation for select metabolic disorders: Expanding the living donor pool.
pantoate-beta-alanine ligase (amp-forming) deficiency
Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment.
pantoate-beta-alanine ligase (amp-forming) deficiency
Extrapontine myelinolysis resulting in transient cortical blindness.
pantoate-beta-alanine ligase (amp-forming) deficiency
Fetal liver biopsy for prenatal diagnosis of carbamoyl phosphate synthetase deficiency.
pantoate-beta-alanine ligase (amp-forming) deficiency
Hemodialysis catheter placement and recirculation in treatment of hyperammonemia.
pantoate-beta-alanine ligase (amp-forming) deficiency
Prospective treatment of urea cycle disorders.
pantoate-beta-alanine ligase (amp-forming) deficiency
Short-term survival of hyperammonemic neonates treated with dialysis.
pantoate-beta-alanine ligase (amp-forming) deficiency
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.
pantoate-beta-alanine ligase (amp-forming) deficiency
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.
Phenylketonurias
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
Phenylketonurias
[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.
Propionic Acidemia
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.
Prostatic Neoplasms
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.
Seizures
Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy.
Seizures
Immunological evidence for a carbamylphosphate synthetase lesion resulting in the formation of enzyme with altered sub-unit size.
Seizures
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.
Sepsis
Hepatic glutamine metabolism in the septic rat.
Sepsis
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.
Starvation
Effects of phosphate limitation on expression of genes involved in pyrimidine synthesis and salvaging in Arabidopsis.
Starvation
Involvement of a cis-acting element in the suppression of carbamoyl phosphate synthetase I gene expression in the liver of carnitine-deficient mice.
Starvation
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.
Tyrosinemias
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.
Urea Cycle Disorders, Inborn
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.
Urea Cycle Disorders, Inborn
Citrulline Administration for Urea Cycle Disorders in Japan.
Urea Cycle Disorders, Inborn
Clinical features of carbamyl phosphate synthetase-I deficiency in an adult.
Urea Cycle Disorders, Inborn
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.
Urea Cycle Disorders, Inborn
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
Urea Cycle Disorders, Inborn
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).
Urea Cycle Disorders, Inborn
Late clinical presentation of partial carbamyl phosphate synthetase I deficiency.
Urea Cycle Disorders, Inborn
Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency.
Urea Cycle Disorders, Inborn
Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Urea Cycle Disorders, Inborn
Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.
Urea Cycle Disorders, Inborn
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.
Urea Cycle Disorders, Inborn
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.
Urea Cycle Disorders, Inborn
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.
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