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

作者信息

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

出版信息

J R Soc Med. 1978 Nov;71(11):791-5. doi: 10.1177/014107687807101104.

DOI:10.1177/014107687807101104

PMID:731641

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1436179/

Abstract

摘要

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

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引用本文的文献

Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.

J Chromatogr B Analyt Technol Biomed Life Sci. 2016 Nov 15;1036-1037:170-177. doi: 10.1016/j.jchromb.2016.09.018. Epub 2016 Sep 14.

Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.

Hum Genet. 1985;71(2):171-6. doi: 10.1007/BF00283377.

本文引用的文献

Urinary excretion of purines, pyrimidines and pyrazolopyrimidines in patients treated with allopurinol or oxipurinol.

Clin Chim Acta. 1969 Feb;23(2):353-64. doi: 10.1016/0009-8981(69)90052-7.

A quantitative approach to the analysis of renal calculi.

J Med Lab Technol. 1970 Oct;27(4):462-74.

[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine].

C R Acad Hebd Seances Acad Sci D. 1974 Sep;279(10):883-6.

The thermogravimetric analysis of renal stones (in clinical practice).

Br J Urol. 1976 Dec;48(6):403-12. doi: 10.1111/j.1464-410x.1976.tb06668.x.

The identification of 2,8-dihydroxyadenine, a new component of urinary stones.

Biochem J. 1976 Aug 1;157(2):485-7. doi: 10.1042/bj1570485.

Complete deficiency of adenine phosphoribosyltransferase. Report of a family.

N Engl J Med. 1977 Jul 21;297(3):127-32. doi: 10.1056/NEJM197707212970302.

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

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

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