An adult with type 2 citrullinemia presenting in Europe

N Engl J Med. 2008 Mar 27;358(13):1408-9. doi: 10.1056/NEJMc0707353.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aspartic Acid / metabolism
  • Biological Transport, Active
  • Citrullinemia / complications
  • Citrullinemia / genetics*
  • Citrullinemia / metabolism
  • Europe
  • Fatal Outcome
  • Glutamic Acid / metabolism
  • Humans
  • Hyperammonemia / etiology
  • Liver / metabolism
  • Male
  • Membrane Transport Proteins / genetics*
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins / genetics*
  • Point Mutation*
  • Sequence Analysis, DNA

Substances

  • Membrane Transport Proteins
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins
  • SLC25A13 protein, human
  • Aspartic Acid
  • Glutamic Acid