Pyruvate dehydrogenase deficiency

J Med Genet. 1994 Nov;31(11):875-9. doi: 10.1136/jmg.31.11.875.
No abstract available

Publication types

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

MeSH terms

  • Brain / pathology
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Prenatal Diagnosis
  • Pyruvate Dehydrogenase Complex Deficiency Disease / diagnosis
  • Pyruvate Dehydrogenase Complex Deficiency Disease / genetics*
  • Pyruvate Dehydrogenase Complex Deficiency Disease / therapy
  • Syndrome