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Case Reports
. 1976 Aug;10(8):762-6.
doi: 10.1203/00006450-197608000-00014.

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

H Debray, P Cartier, A Temstet, J Cendron
Case Reports

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

H Debray et al. Pediatr Res. 1976 Aug.

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.

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