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Biochemical and clinical studies of Friedreich's ataxia
  1. P Purkiss,
  2. M Baraitser,
  3. O Borud,
  4. R A Chalmers
  1. Division of Inherited Metabolic Diseases, Medical Research Council, Clinical Research Centre, Watford Road, Harrow, England

    Abstract

    A series of biochemical tests aimed at elucidating the fundamental cause has been applied to 20 patients with Friedreich's ataxia. Special emphasis was placed upon pyruvate metabolism. The results demonstrate no precisely identifiable defect in the metabolism of pyruvate but indicate an abnormality in glucose uptake and metabolism.

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