Case Reports
doi: 10.1203/00006450-197608000-00014.
Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase
- PMID: 7766
- DOI: 10.1203/00006450-197608000-00014
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Case Reports
Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase
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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