D-2-hydroxyglutaric aciduria: evidence of clinical and biochemical heterogeneity

J Inherit Metab Dis. 1998 Jun;21(3):247-50. doi: 10.1023/a:1005364004746.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / blood
  • Amino Acid Metabolism, Inborn Errors / cerebrospinal fluid
  • Amino Acid Metabolism, Inborn Errors / urine*
  • Child, Preschool
  • Female
  • Glutarates / blood
  • Glutarates / cerebrospinal fluid
  • Glutarates / urine*
  • Humans
  • Infant, Newborn
  • Male

Substances

  • Glutarates
  • alpha-hydroxyglutarate