A Constitutive Knockout of Murine Carbamoyl Phosphate Synthetase 1 Results in Death with Marked Hyperglutaminemia and Hyperammonemia

Lignende værker

• Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency
  af: Nitzahn, Matthew, et al.
  Udgivet: (2020)
• 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
  af: Khoja, Suhail, et al.
  Udgivet: (2018)
• Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing
  af: Isler, Jasmine, et al.
  Udgivet: (2020)
• Biallelic mutations in carbamoyl phosphate synthetase 1 induced hyperammonemia in a neonate: A case report
  af: Xu, Jun, et al.
  Udgivet: (2020)
• Increased Occurrence of Valproic Acid-Induced Hyperammonemia in Carriers of T1405N Polymorphism in Carbamoyl Phosphate Synthetase 1 Gene
  af: Janicki, Piotr K., et al.
  Udgivet: (2013)