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Journal of Inherited Metabolic Disease

, Volume 15, Issue 3, pp 331–334 | Cite as

Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis

  • H. R. Scholte
  • H. F. M. Busch
  • I. E. M. Luyt-Houwen
Short Communication

Keywords

Carnitine Pyruvate Dehydrogenase Pyruvate Dehydrogenase Complex Palmitoylcarnitine Pyruvate Dehydrogenase Deficiency 
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.

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References

  1. Arts WFM, Scholte HR, Loonen MCB et al (1987) Cytochromec oxidase deficiency in subacute necrotizing encephalomyelopathy.J Neurol Sci 77: 103–115.PubMedCrossRefGoogle Scholar
  2. Bookelman H, Trijbels JMF, Sengers RCA, Janssen AJM (1978) Measurement of cytochromes in, human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens.Biochem Med 19: 366–373.PubMedCrossRefGoogle Scholar
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  5. Scholte HR, Busch HFM, Luyt-Houwen IEM, Vaandrager-Verduin MHM, Przyrembel H, Arts WFM (1987a). Defects in oxidative phosphorylation and expression of the lesion in other cells.J Inher Metab Dis 10 (suppl. 1): 81–97.PubMedCrossRefGoogle Scholar
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  7. Scholte HR, Agsteribbe E, Busch HFM et al (1990) Oxidative phosphorylation in patients with ocular myopathy and after general anaesthesia.Biochim Biophys acta 1018: 211–216.PubMedCrossRefGoogle Scholar
  8. Stansbie D, Wallace SJ, Marsac C (1986) Disorders of the pyruvate dehydrogenase complex.J Inher Metab Dis 9: 105–119.PubMedCrossRefGoogle Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1992

Authors and Affiliations

  • H. R. Scholte
    • 1
  • H. F. M. Busch
    • 1
  • I. E. M. Luyt-Houwen
    • 1
  1. 1.Department of Biochemistry and Neurology of the Erasmus University RotterdamRotterdamThe Netherlands

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