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    Pediatr Res. 1976 Aug;10(8):762-6.

    Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase.

    Debray H, Cartier P, Temstet A, Cendron J.

    Abstract

    In one case of a urinary lithiasis, termed "uric lithiasis" on biochemical examination, the authors describe the symptomatology of a child with a complete deficit in adenine phosphoribosyl transferase. After more intensive investigation the calculi have been found to be composed of a new clinical compound: 2,8-hydroxyadenine.

    PMID:
    7766
    [PubMed - indexed for MEDLINE]

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