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J R Soc Med. 1978 November; 71(11): 791–795.
PMCID: PMC1436179

Adenine phosphoribosyltransferase deficiency presenting with supposed 'uric acid' stones: pitfalls of diagnosis.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Cartier P, Hamet M, Hamburger J. Une nouvelle maladie nétabolique: le déficit complete en adénine-phosphoribosyltransférase avec lithiase de 2,8-dihydroxyadénine. C R Acad Sci Hebd Seances Acad Sci D. 1974 Sep;279(10):883–886. [PubMed]
  • Debray H, Cartier P, Temstet A, Cendron J. Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase. Pediatr Res. 1976 Aug;10(8):762–766. [PubMed]
  • Rose GA, Woodfine C. The thermogravimetric analysis of renal stones (in clinical practice). Br J Urol. 1976 Dec;48(6):403–412. [PubMed]
  • Simmonds HA. Urinary excretion of purines, pyrimidines and pyrazolopyrimidines in patients treated with allopurinol or oxipurinol. Clin Chim Acta. 1969 Feb;23(2):353–364. [PubMed]
  • Simmonds HA, Van Acker KJ, Cameron JS, Snedden W. The identification of 2,8-dihydroxyadenine, a new component of urinary stones. Biochem J. 1976 Aug 1;157(2):485–487. [PubMed]
  • Van Acker KJ, Simmonds HA, Potter C, Cameron JS. Complete deficiency of adenine phosphoribosyltransferase. Report of a family. N Engl J Med. 1977 Jul 21;297(3):127–132. [PubMed]
  • Westbury EJ, Omenogor P. A quantitative approach to the analysis of renal calculi. J Med Lab Technol. 1970 Oct;27(4):462–474. [PubMed]

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