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

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Journal of Inherited Metabolic Disease

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Scholte, H.R., Busch, H.F.M. & Luyt-Houwen, I.E.M. Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis. J Inherit Metab Dis 15, 331–334 (1992). https://doi.org/10.1007/BF02435969

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