Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
GeneticVariation
|
disease |
BEFREE |
We used targeted next-generation sequencing to identify carbamoyl phosphate synthetase 1 (CPS1) variants in patients suspected to have CPS1D.
|
31749211 |
2019 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
GeneticVariation
|
disease |
BEFREE |
The fatal nature of CPS1D and its similar symptoms with other urea cycle disorders (UCDs) make its diagnosis difficult, and the molecular diagnosis is hindered due to the large size of the causative gene CPS1.
|
28444906 |
2018 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
Biomarker
|
disease |
CLINGEN |
Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.
|
29801986 |
2018 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
GeneticVariation
|
disease |
BEFREE |
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy.
|
29314318 |
2018 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
Biomarker
|
disease |
CLINGEN |
Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.
|
27834067 |
2017 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
GeneticVariation
|
disease |
BEFREE |
Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.
|
27834067 |
2017 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
Biomarker
|
disease |
CLINGEN |
Loss of Hep Par 1 immunoreactivity in the livers of patients with carbamoyl phosphate synthetase 1 deficiency.
|
27150549 |
2016 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
GeneticVariation
|
disease |
BEFREE |
Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an inborn error of the urea cycle that is due to mutations in the CPS1 gene.
|
24813853 |
2014 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
AlteredExpression
|
disease |
BEFREE |
NAG and its analogue and orphan drug N-carbamoyl-l-glutamate, protected human CPS1 against proteolytic and thermal inactivation in the presence of MgATP, raising hopes of treating CPS1D by chemical chaperoning with N-carbamoyl-l-glutamate.
|
23649895 |
2013 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
Biomarker
|
disease |
CLINGEN |
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.
|
22173106 |
2012 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.
|
20800523 |
2010 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
Biomarker
|
disease |
CLINGEN |
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
|
19793055 |
2009 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
Biomarker
|
disease |
CTD_human |
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
|
17310273 |
2007 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
Biomarker
|
disease |
CLINGEN |
Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.
|
15617192 |
2004 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
Biomarker
|
disease |
CLINGEN |
Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.
|
12655559 |
2003 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
Biomarker
|
disease |
CLINGEN |
Mice deficient in the urea-cycle enzyme, carbamoyl phosphate synthetase I, die during the early neonatal period from hyperammonemia.
|
9862865 |
1999 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
Biomarker
|
disease |
MGD |
Mice deficient in the urea-cycle enzyme, carbamoyl phosphate synthetase I, die during the early neonatal period from hyperammonemia.
|
9862865 |
1999 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
GeneticVariation
|
disease |
BEFREE |
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
|
9711878 |
1998 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
Biomarker
|
disease |
CLINGEN |
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
|
9711878 |
1998 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
Biomarker
|
disease |
CLINGEN |
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.
|
8486760 |
1993 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
Biomarker
|
disease |
CTD_human |
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.
|
8486760 |
1993 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
0.870 |
Biomarker
|
disease |
CLINGEN |
Mammalian urea cycle enzymes.
|
3545062 |
1986 |
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
0.710 |
AlteredExpression
|
disease |
BEFREE |
To investigate the efficacy of gene therapy for CPS deficiency following knock-down of hepatic endogenous CPS1 expression, we injected these mice with a helper-dependent adenoviral vector (HDAd) expressing the large murine CPS1 cDNA under control of the phosphoenolpyruvate carboxykinase promoter.
|
29801986 |
2018 |
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
|
28526534 |
2017 |
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.
|
28007335 |
2017 |