Pyruvate carboxylase deficiency. Report of a case and additional evidence for the "mild" phenotype

Clin Pediatr (Phila). 2001 Sep;40(9):519-21. doi: 10.1177/000992280104000909.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acidosis / etiology
  • Child, Preschool
  • Humans
  • Male
  • Paresis / etiology
  • Phenotype
  • Pyruvate Carboxylase Deficiency Disease / complications*
  • Pyruvate Carboxylase Deficiency Disease / genetics
  • Pyruvate Carboxylase Deficiency Disease / therapy