Unusual clinical presentation in two boys with cytochrome c oxidase deficiency

J Inherit Metab Dis. 1992;15(3):320-2. doi: 10.1007/BF02435966.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Triphosphate / metabolism
  • Bone Diseases / etiology
  • Brain Diseases / etiology
  • Cells, Cultured
  • Cryptorchidism / etiology
  • Cytochrome-c Oxidase Deficiency*
  • Fibroblasts / enzymology
  • Glutamates / metabolism
  • Glutamic Acid
  • Humans
  • Infant
  • Malates / metabolism
  • Male
  • Muscular Diseases / etiology

Substances

  • Glutamates
  • Malates
  • Glutamic Acid
  • malic acid
  • Adenosine Triphosphate