Familial encephalopathy and L-2-hydroxyglutaric aciduria

J Inherit Metab Dis. 1993;16(5):893. doi: 10.1007/BF00714285.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Brain Diseases / enzymology
  • Brain Diseases / genetics*
  • Brain Diseases / urine
  • Glutarates / urine*
  • Humans
  • Lysosomes / enzymology
  • Male
  • Tunisia

Substances

  • Glutarates
  • alpha-hydroxyglutarate