Skip to main content
Journal of the Royal Society of Medicine logoLink to Journal of the Royal Society of Medicine
. 1978 Nov;71(11):791–795. doi: 10.1177/014107687807101104

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

H A Simmonds, C F Potter, A Sahota, J S Cameron, G A Rose, T M Barratt, D I Williams, D G Arkell, K J Van Acker
PMCID: PMC1436179  PMID: 731641

Full text

PDF
791

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. 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] [Google Scholar]
  2. 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. doi: 10.1203/00006450-197608000-00014. [DOI] [PubMed] [Google Scholar]
  3. Rose G. A., Woodfine C. The thermogravimetric analysis of renal stones (in clinical practice). Br J Urol. 1976 Dec;48(6):403–412. doi: 10.1111/j.1464-410x.1976.tb06668.x. [DOI] [PubMed] [Google Scholar]
  4. Simmonds H. A. Urinary excretion of purines, pyrimidines and pyrazolopyrimidines in patients treated with allopurinol or oxipurinol. Clin Chim Acta. 1969 Feb;23(2):353–364. doi: 10.1016/0009-8981(69)90052-7. [DOI] [PubMed] [Google Scholar]
  5. Simmonds H. A., Van Acker K. J., Cameron J. S., Snedden W. The identification of 2,8-dihydroxyadenine, a new component of urinary stones. Biochem J. 1976 Aug 1;157(2):485–487. doi: 10.1042/bj1570485. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Van Acker K. J., Simmonds H. A., Potter C., Cameron J. S. Complete deficiency of adenine phosphoribosyltransferase. Report of a family. N Engl J Med. 1977 Jul 21;297(3):127–132. doi: 10.1056/NEJM197707212970302. [DOI] [PubMed] [Google Scholar]
  7. Westbury E. J., Omenogor P. A quantitative approach to the analysis of renal calculi. J Med Lab Technol. 1970 Oct;27(4):462–474. [PubMed] [Google Scholar]

Articles from Journal of the Royal Society of Medicine are provided here courtesy of Royal Society of Medicine Press

RESOURCES