# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Finding useful health information on the Internet can be difficult, but we’re here to help. This page gathers quality information from trusted sources. You can learn more about the disease, visit handpicked websites, and find resources to help you in your daily life. Need more information? Click the menu on the left to find more!

 

Carbamoyl Phosphate Synthetase 1 Deficiency

Carbamyl Phosphate Synthetase Deficiency
Get Update

Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Carbamoyl Phosphate Synthetase 1 Deficiency" returned 0 free, full-text review articles. First 0 results:
Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.
Last Updated: Jun 05, 2017

Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to life-threatening hyperammonemia. Unless promptly treated, it can result in encephalopathy, coma and death, or intellectual disability in surviving ...

Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.
Last Updated: Feb 21, 2019

Carbamoyl phosphate synthetase 1 (CPS1) plays a paramount role in liver ureagenesis since it catalyzes the first and rate-limiting step of the urea cycle, the major pathway for nitrogen disposal in humans. CPS1 deficiency (CPS1D) is an autosomal recessive inborn error which leads ...

Full PubMed Review articles matches at NCBI:
0 Free Review Articles 2 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Carbamoyl Phosphate Synthetase 1 Deficiency" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
Full PubMed Editorials matches at NCBI:
0 Free Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Carbamoyl Phosphate Synthetase 1 Deficiency" returned 5 free, full-text research articles. First few results:
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy.
Last Updated: Nov 14, 2019

Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive disorder of the urea cycle, mostly characterized by hyperammonemia and the concomitant leukodystrophy. The onset of CPS1D can be at any age, and the clinical manifestations are variable and atypical. ...

Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.
Last Updated: Nov 14, 2019

Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D) is a rare autosomal recessive inborn metabolic disease characterized mainly by hyperammonemia. The fatal nature of CPS1D and its similar symptoms with other urea cycle disorders (UCDs) make its diagnosis difficult, and the molecular ...

Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.
Last Updated: Nov 13, 2018

Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metabolites is not sufficient to properly exclude other UCDs with similar symptoms. We report the first Korean CPS1D patient ...

Full PubMed Research articles matches at NCBI:
5 Free Research Articles 13 Research Articles