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.
Abstract
摘要
相似文献
1
Adenine phosphoribosyltransferase deficiency presenting with supposed 'uric acid' stones: pitfalls of diagnosis.表现为疑似“尿酸”结石的腺嘌呤磷酸核糖转移酶缺乏症：诊断陷阱
J R Soc Med. 1978 Nov;71(11):791-5. doi: 10.1177/014107687807101104.
2
Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency.
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3
Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.腺嘌呤磷酸核糖转移酶完全缺乏：一名幼儿出现肾结石的第三例病例。
Arch Dis Child. 1979 Jan;54(1):25-31. doi: 10.1136/adc.54.1.25.
4
2,8-dihydroxyadenine stone in children.
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5
2,8-Dihydroxyadeninuria--or when is a uric acid stone not a uric acid stone?
Clin Nephrol. 1979 Nov;12(5):195-7.
6
[Urolithiasis composed of 2,8-dihydroxyadenine due to partial deficiency of adenine phosphoribosyltransferase. Report of a case (author's transl)].腺嘌呤磷酸核糖转移酶部分缺乏所致的2,8 - 二羟基腺嘌呤尿路结石。病例报告（作者译）
Nihon Hinyokika Gakkai Zasshi. 1980;71(3):283-8. doi: 10.5980/jpnjurol1928.71.3_283.
7
[Are urate calculi always urates?].
Duodecim. 1988;104(20):1630-4.
8
[A case of right ureteral stone with complete deficiency of adenine phosphoribosyltransferase].[一例右输尿管结石合并腺嘌呤磷酸核糖转移酶完全缺乏症]
Hinyokika Kiyo. 1985 Aug;31(8):1453-8.
9
The identification of 2,8-dihydroxyadenine, a new component of urinary stones.尿结石新成分2,8 - 二羟基腺嘌呤的鉴定
Biochem J. 1976 Aug 1;157(2):485-7. doi: 10.1042/bj1570485.
10
Complete deficiency of adenine phosphoribosyltransferase: report of a family.腺嘌呤磷酸核糖转移酶完全缺乏症：一个家系报告
Adv Exp Med Biol. 1977;76A:295-305. doi: 10.1007/978-1-4613-4223-6_37.
引用本文的文献
1
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.采用超高效液相色谱-串联质谱法定量检测尿液中的2,8-二羟基腺嘌呤用于腺嘌呤磷酸核糖转移酶缺乏症的诊断和管理
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.
本文引用的文献
1
Urinary excretion of purines, pyrimidines and pyrazolopyrimidines in patients treated with allopurinol or oxipurinol.接受别嘌醇或氧嘌呤醇治疗的患者嘌呤、嘧啶及吡唑并嘧啶的尿排泄情况。
Clin Chim Acta. 1969 Feb;23(2):353-64. doi: 10.1016/0009-8981(69)90052-7.
2
A quantitative approach to the analysis of renal calculi.
J Med Lab Technol. 1970 Oct;27(4):462-74.
3
[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine].[一种新的代谢性疾病：腺嘌呤磷酸核糖转移酶完全缺乏与2,8-二羟基腺嘌呤结石症]
C R Acad Hebd Seances Acad Sci D. 1974 Sep;279(10):883-6.
4
The thermogravimetric analysis of renal stones (in clinical practice).肾结石的热重分析（临床实践中）
Br J Urol. 1976 Dec;48(6):403-12. doi: 10.1111/j.1464-410x.1976.tb06668.x.
5
The identification of 2,8-dihydroxyadenine, a new component of urinary stones.尿结石新成分2,8 - 二羟基腺嘌呤的鉴定
Biochem J. 1976 Aug 1;157(2):485-7. doi: 10.1042/bj1570485.
6
Complete deficiency of adenine phosphoribosyltransferase. Report of a family.腺嘌呤磷酸核糖转移酶完全缺乏症。一家系报告。
N Engl J Med. 1977 Jul 21;297(3):127-32. doi: 10.1056/NEJM197707212970302.
7
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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