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Biopterin defect in a normal-appearing child affected by a transient phenylketonuria.
  1. F Rey,
  2. R J Leeming,
  3. J A Blair,
  4. J Rey


    A child diagnosed as having transient phenylketonuria was found to have reduced synthesis of tetrahydrobiopterin and an abnormal clearance of phenylalanine, but he remained clinically normal when on a normal diet. A small amount of 7,8-dihydrobiopterin was found in his serum; this distinguishes the case from that of malignant hyperphenylalaninaemia.

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