Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels: mutations in the SLC25A13 gene

J Neurol Sci. 2001 Dec 15;193(1):63. doi: 10.1016/s0022-510x(01)00646-3.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Calcium-Binding Proteins / genetics*
  • Calcium-Binding Proteins / metabolism
  • Citrulline / blood*
  • Citrulline / genetics*
  • Citrullinemia / blood
  • Citrullinemia / genetics*
  • Citrullinemia / physiopathology
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Exons / genetics
  • Gene Deletion
  • Heterozygote
  • Humans
  • Male
  • Membrane Transport Proteins*
  • Middle Aged
  • Mitochondria, Liver / metabolism*
  • Mitochondria, Liver / pathology
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins*
  • Mutation / genetics*

Substances

  • Calcium-Binding Proteins
  • Membrane Transport Proteins
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins
  • SLC25A13 protein, human
  • Citrulline