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Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Anderson S, Bankier AT, Barrell BG, et al (1981) Sequence and organisation of human mitochondrial genome. Nature 290: 457-465.

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  • Fujii T, Hattori H, Higuchi Y, Tsuji M, Mitsuyoshi I (1998) Phenotypic differences between T→C and T→G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome. Pediatr Neurol 18: 275-277.

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  • Vreken P, van Lint AEM, Bootsma AH, Overmars H, Wanders RJA, van Gennip AH (1999) Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects. J Inherit Metab Dis 22: 302-306.

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Authors and Affiliations

  1. Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary

    G. Tóth, É. Morava, J. Bene & B. Melegh

  2. Academic Medical Center, Laboratory of Genetic Metabolic Diseases, University of Amsterdam, Amsterdam, The Netherlands

    J. J. M. Selhorst, H. Overmars & P. Vreken

  3. National Institute of Psychiatry and Neurology, Budapest

    J. Molnár

  4. 1st Department of Pediatrics, Semmelweis University, Budapest, Hungary

    V. Farkas

Authors
  1. G. Tóth
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  2. É. Morava
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  3. J. Bene
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  4. J. J. M. Selhorst
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  5. H. Overmars
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  6. P. Vreken
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  7. J. Molnár
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  8. V. Farkas
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  9. B. Melegh
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Tóth, G., Morava, É., Bene, J. et al. Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome. J Inherit Metab Dis 24, 421–422 (2001). https://doi.org/10.1023/A:1010537527291

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  • DOI: https://doi.org/10.1023/A:1010537527291

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