[Molecular basis of citrin deficiency]

Seikagaku. 2004 Dec;76(12):1543-59.
[Article in Japanese]
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Aspartic Acid / metabolism
  • Calcium / metabolism
  • Calcium-Binding Proteins / deficiency*
  • Calcium-Binding Proteins / physiology
  • Cholestasis, Intrahepatic / etiology
  • Chromosome Mapping / methods
  • Citrullinemia / classification
  • Citrullinemia / genetics
  • Citrullinemia / physiopathology
  • Gene Frequency
  • Homozygote
  • Humans
  • Infant, Newborn
  • Maleates / metabolism
  • Membrane Transport Proteins / genetics
  • Mitochondria / metabolism
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins / genetics
  • Mutation
  • NAD / metabolism
  • Organic Anion Transporters / deficiency*
  • Organic Anion Transporters / physiology

Substances

  • Calcium-Binding Proteins
  • Maleates
  • Membrane Transport Proteins
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins
  • Organic Anion Transporters
  • SLC25A13 protein, human
  • NAD
  • citrin
  • Aspartic Acid
  • maleic acid
  • Calcium