Condition: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency


rs1015051007 in CPS1 gene and Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency PMID 12955727 2003 Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.

PMID 24813853 2014 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.

PMID 26440671 2016 Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.

PMID 15164414 2004 Genetic approach to prenatal diagnosis in urea cycle defects.

PMID 17310273 2007 Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

PMID 23649895 2013 Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.

PMID 9711878 1998 Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.

PMID 15617192 2004 Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.

PMID 20578160 2010 Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.

PMID 16737834 2006 The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.

PMID 21120950 2011 Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

PMID 12655559 2003 Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.

PMID 22173106 2012 Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

PMID 11474210 2001 Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.

PMID 11388595 2001 Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.

PMID 28526534 2017 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

PMID 15876373 2005 Understanding carbamoyl phosphate synthetase deficiency: impact of clinical mutations on enzyme functionality.

PMID 27150549 2016 Loss of Hep Par 1 immunoreactivity in the livers of patients with carbamoyl phosphate synthetase 1 deficiency.

PMID 9686343 1998 Molecular genetic research into carbamoyl-phosphate synthase I: molecular defects and linkage markers.

PMID 20855223 2011 Molecular characterization of CPS1 deletions by array CGH.

PMID 28007335 2017 Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.

PMID 19793055 2009 Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?