一名成年人因2,8 - 二羟基腺嘌呤导致的尿石症。 - Suppr

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超能文献

Urolithiasis due to 2,8-dihydroxyadenine in an adult.

作者信息

Gault M H, Simmonds H A, Snedden W, Dow D, Churchill D N, Penney H

出版信息

N Engl J Med. 1981 Dec 24;305(26):1570-2. doi: 10.1056/NEJM198112243052608.

DOI:10.1056/NEJM198112243052608

PMID:7311997

Abstract

摘要

相似文献

Urolithiasis due to 2,8-dihydroxyadenine in an adult.一名成年人因2,8 - 二羟基腺嘌呤导致的尿石症。

N Engl J Med. 1981 Dec 24;305(26):1570-2. doi: 10.1056/NEJM198112243052608.

2,8-Dihydroxyadeninuria--or when is a uric acid stone not a uric acid stone?

Clin Nephrol. 1979 Nov;12(5):195-7.

[Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria].[磷酸核糖基转移酶（APRT）缺乏症——二羟腺嘌呤尿症的分子与临床方面]

Postepy Hig Med Dosw. 1998;52(1):89-104.

[Urolithiasis in 2,8-dihydroxyadeninuria: presentation of 3 additional cases].

Z Urol Nephrol. 1990 Jul;83(7):383-9.

2,8-Dihydroxyadenine urolithiasis: report of an adult case in the United States.2,8 - 二羟基腺嘌呤尿石症：美国一例成人病例报告。

J Urol. 1987 Feb;137(2):312-4. doi: 10.1016/s0022-5347(17)43993-0.

[2,8-Dihydroxyadenine lithiasis].

Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):467-9.

Analysis of purines in urinary calculi by high-performance liquid chromatography.高效液相色谱法分析尿结石中的嘌呤

Anal Biochem. 2000 Nov 15;286(2):224-30. doi: 10.1006/abio.2000.4790.

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.

[A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination].[一例通过尿液检查发现的腺嘌呤磷酸核糖转移酶（APRT）缺乏症]

Nihon Jinzo Gakkai Shi. 1994 Oct;36(10):1191-5.

[Adenine phosphoribosyltransferase deficiency].

Nihon Rinsho. 1993 Jan;51 Suppl:1087-95.

引用本文的文献

Human adenine phosphoribosyltransferase: characterization from subjects with a deficiency of enzyme activity.人类腺嘌呤磷酸核糖转移酶：来自酶活性缺乏受试者的特征描述。

Biochem Genet. 1983 Dec;21(11-12):1121-34. doi: 10.1007/BF00488464.

Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.

Hum Genet. 1985;71(2):167-70. doi: 10.1007/BF00283376.

Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.来自四个不同日本家族的与部分酶缺陷相关的2,8 - 二羟基腺嘌呤尿路结石的突变腺嘌呤磷酸核糖转移酶的共同特征。

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

Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.对19个腺嘌呤磷酸核糖转移酶缺乏症家族的遗传学和临床研究。

Hum Genet. 1987 Feb;75(2):163-8. doi: 10.1007/BF00591080.

Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystals.腺嘌呤磷酸核糖转移酶缺乏症：一例通过气相色谱-质谱联用技术鉴定尿结晶中2,8-二羟基腺嘌呤而确诊的病例。

J Inherit Metab Dis. 1987;10(2):187-94. doi: 10.1007/BF01800046.

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