Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

J Inherit Metab Dis. 1998 Jun;21(3):216-9. doi: 10.1023/a:1005391300203.
No abstract available

MeSH terms

  • Abnormalities, Multiple / blood
  • Abnormalities, Multiple / genetics*
  • Ataxia / genetics
  • Biomarkers
  • Child, Preschool
  • Citrulline / blood*
  • DNA, Mitochondrial*
  • Female
  • Glycine / genetics
  • Humans
  • Infant
  • Male
  • Muscular Diseases / genetics
  • Mutation*
  • Retinitis Pigmentosa / genetics
  • Threonine / genetics

Substances

  • Biomarkers
  • DNA, Mitochondrial
  • Citrulline
  • Threonine
  • Glycine