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Journal of Inherited Metabolic Disease

, Volume 6, Issue 3, pp 121–122 | Cite as

Two siblings with cytochromec oxidase deficiency

  • S. Miyabayashi
  • K. Narisawa
  • K. Tada
  • K. Sakai
  • K. Kobayashi
  • Y. Kobayashi
Jsimd Meeting

Keywords

Pyruvate Carboxylase Pyruvate Dehydrogenase Complex Phosphoenolpyruvate Carboxykinase Mitochondrial Myopathy Culture Skin Fibroblast 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Atokin, B. M., Utter, M. F. and Weinberg, M. B. Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency.Pediatr. Res. 13 (1979) 38–43CrossRefGoogle Scholar
  2. Ballard, F. J. and Hanson, R. W. Phosphoenolpyruvate carboxykinase and pyruvate carboxylase in developing rat liver.Biochem. J. 104 (1967) 866–871PubMedGoogle Scholar
  3. DiMauro, S., Mendell, J. R., Sahenk, Z., Bachman, D., Scarpa, A., Scofield, R. M. and Reiner, C. Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency.Neurology 30 (1980) 795–804PubMedGoogle Scholar
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  10. Wharton, D. C. and Tzacoloff, A. Cytochrome oxidase from beef heart mitochondria.Methods in Enzymology 10 (1967) 245–250CrossRefGoogle Scholar

Copyright information

© SSIEM and MTP Press Limited 1983

Authors and Affiliations

  • S. Miyabayashi
    • 1
  • K. Narisawa
    • 1
  • K. Tada
    • 1
  • K. Sakai
    • 2
  • K. Kobayashi
    • 2
  • Y. Kobayashi
    • 3
  1. 1.Department of PediatricsTohoku University School of MedicineSendaiJapan
  2. 2.Department of Neurology, Institute of Brain DiseaseTohoku University School of MedicineSendaiJapan
  3. 3.Department of AnatomyTohoku University School of MedicineSendaiJapan

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