N-CARBAMYLGLUTAMATE ENHANCEMENT OF UREAGENESIS LEADS TO DISCOVERY OF A NOVEL DELETERIOUS MUTATION IN A NEWLY DEFINED ENHANCER OF THE NAGS GENE AND TO EFFECTIVE THERAPY

Lignende værker

• Effects of a Single Dose of N-Carbamylglutamate on the Rate of Ureagenesis
  af: Yudkoff, Marc, et al.
  Udgivet: (2009)
• N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine levels in patients with propionic acidemia
  af: Mew, Nicholas Ah, et al.
  Udgivet: (2010)
• N-carbamylglutamate Markedly Enhances Ureagenesis in N-acetylglutamate Deficiency and Propionic Acidemia as Measured by Isotopic Incorporation and Blood Biomarkers
  af: Tuchman, Mendel, et al.
  Udgivet: (2008)
• Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1deficiency with N-carbamylglutamate
  af: Ah Mew, Nicholas, et al.
  Udgivet: (2014)
• Measuring In Vivo Ureagenesis With Stable Isotopes
  af: Yudkoff, Marc, et al.
  Udgivet: (2010)