• 1
    Brusilow SW, Horwich AL. Urea cycle disorders. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonrakis SE, Bellabio A, eds. The Online Metabolic and Molecular Bases of Inherited Disease. Available at: Accessed October 22, 2012.
  • 2
    Krivitzky L, Babikian T, Lee HS, Thomas NH, Burk-Paull KL, Batshaw ML. Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders. Pediatr Res 2009; 66: 96-101.
  • 3
    Vockley J, Vockley CM. Clinical trials: curing a critical deficiency in metabolic medicine. Mol Genet Metab 2010; 99: 244-245.
  • 4
    Cederbaum S, Lemons C, Batshaw ML. Alternative pathway or diversion therapy for urea cycle disorders now and in the future. Mol Genet Metab 2010; 100: 219-220.
  • 5
    Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A. Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. N Engl J Med 2007; 356: 2282-2292.
  • 6
    Lee B, Rhead W, Diaz GA, Scharschmidt BF, Mian A, Shchelochkov O, et al. Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics, and ammonia control. Mol Genet Metab 2010; 100: 221-228.
  • 7
    Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, et al. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. HEPATOLOGY 2012 Sep 7. doi: 10.1002/hep.26058.
  • 8
    Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, et al. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab 2010; 100( Suppl 1): S97-105.
  • 9
    McGuire BM, Zupanets IA, Lowe ME, Xiao X, Syplyviy VA, Monteleone J, et al. Pharmacology and safety of glycerol phenylbutyrate in healthy adults and adults with cirrhosis. HEPATOLOGY 2010; 51: 2077-2085.