Adenine nucleotide translocator deficiency in muscle: potential therapeutic value of vitamin E

J Inherit Metab Dis. 1993;16(3):548-52. doi: 10.1007/BF00711678.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Humans
  • Magnetic Resonance Spectroscopy
  • Male
  • Mitochondrial ADP, ATP Translocases / metabolism*
  • Mitochondrial Myopathies / drug therapy*
  • Mitochondrial Myopathies / metabolism*
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / metabolism*
  • Phosphates / metabolism
  • Phosphocreatine / metabolism
  • Purine-Pyrimidine Metabolism, Inborn Errors / drug therapy*
  • Purine-Pyrimidine Metabolism, Inborn Errors / metabolism*
  • Vitamin E / therapeutic use*

Substances

  • Phosphates
  • Phosphocreatine
  • Vitamin E
  • Mitochondrial ADP, ATP Translocases