Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia

Pediatrics. 1996 Feb;97(2):267-72.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Lactic / enzymology*
  • Blotting, Western
  • Female
  • Fibroblasts
  • Humans
  • Infant, Newborn
  • Pyruvate Dehydrogenase Complex Deficiency Disease / complications
  • Pyruvate Dehydrogenase Complex Deficiency Disease / genetics*
  • Pyruvate Dehydrogenase Complex Deficiency Disease / metabolism