Orphan drugs in development for urea cycle disorders: current perspectives

Article, Review English OPEN
Häberle J; McCandless SE;
  • Publisher: Dove Press
  • Journal: Orphan Drugs: Research and Reviews (issn: 2230-6161)
  • Publisher copyright policies & self-archiving
  • Related identifiers: doi: 10.2147/ODRR.S44065
  • Subject: Research and Reviews [Orphan Drugs] | N-carbamyl-L-glutamate | RM1-950 | orphan drugs | Therapeutics. Pharmacology | Urea cycle disorders | inherited hyperammonemias | phenylbutyrate

Johannes Häberle,1 Shawn E McCandless2 1Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; 2Center for Human Genetics, University Hospitals Case Medical Center, and Department of Ge... View more
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    4. Klaus V, Vermeulen T, Minassian B, et al. Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression? Clin Genet. 2009; 76(3):263-269.

    5. Rüegger CM, Lindner M, Ballhausen D, et al. Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. J Inherit Metab Dis. 2014;37(1):21-30.

    6. Summar ML, Barr F, Dawling S, et al. Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin. 2005; 21(Suppl 4):S1-S8.

    7. Braissant O. Current concepts in the pathogenesis of urea cycle disorders. Mol Genet Metab. 2010;100(Suppl 1):S3-S12.

    8. Braissant O, McLin VA, Cudalbu C. Ammonia toxicity to the brain. J Inherit Metab Dis. 2013;36(4):595-612.

    9. Butterworth RF. Effects of hyperammonaemia on brain function. J Inherit Metab Dis. 1998;21(Suppl 1):6-20.

    10. Kido J, Nakamura K, Mitsubuchi H, et al. Long-term outcome and intervention of urea cycle disorders in Japan. J Inherit Metab Dis. 2012;35(5):777-785.

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