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

類似資料

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