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Leigh syndrome due to pyruvate dehydrogenase E1α deficiency (point mutation R263G) in a Spanish boy

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Journal of Inherited Metabolic Disease

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References

  • Lissens W, De Meirleir L, Seneca S, et al (1996) Mutation analysis of the pyruvate dehydrogenase E1α gene in 8 patients with a pyruvate complex deficiency.Hum Mutat,7: 46–51.

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  • Robinson BH (1995) Lactic acidemia. In: Scriver CR, Beaudet AL, Sly WL and Valle D, eds.The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1479–1499.

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Authors and Affiliations

  1. Institut de Bioquímica Clínica, Apartado de Correos 137, 08290, Cerdanyola (Barcelona), Spain

    P. Briones, A. Ribes & M. Rodés

  2. Hospital Clínico Universitario, Valencia, Spain

    M. J. López, C. Martinez-Costa & M. Peris

  3. Academisch Ziekenhuis, Vrije Universiteit, Brussels, Belgium

    L. De Meirleir & W. Lissens

Authors
  1. P. Briones
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  2. M. J. López
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  3. L. De Meirleir
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  4. A. Ribes
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  5. M. Rodés
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  6. C. Martinez-Costa
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  7. M. Peris
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  8. W. Lissens
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Briones, P., López, M.J., De Meirleir, L. et al. Leigh syndrome due to pyruvate dehydrogenase E1α deficiency (point mutation R263G) in a Spanish boy. J Inherit Metab Dis 19, 795–796 (1996). https://doi.org/10.1007/BF01799177

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  • DOI: https://doi.org/10.1007/BF01799177

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