A case of benign pyruvate carboxylase deficiency with normal development

J Inherit Metab Dis. 1997 Jul;20(3):401-3. doi: 10.1023/a:1005350600278.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Fibroblasts / enzymology
  • Growth Hormone / blood
  • Humans
  • Hydrocortisone / blood
  • Infant
  • Lymphocytes / enzymology
  • Male
  • Pyruvate Carboxylase Deficiency Disease / blood
  • Pyruvate Carboxylase Deficiency Disease / enzymology*
  • Skin / enzymology

Substances

  • Growth Hormone
  • Hydrocortisone