与痛风和尿酸结石相关的次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶部分缺乏症。 - Suppr

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超能文献

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase associated with gout and uric acid lithiasis.

作者信息

Sperling O, Frank M, Ophir R, Liberman U A, Adam A, de Vries A

出版信息

Rev Eur Etud Clin Biol. 1970 Nov;15(9):942-7.

PMID:5505084

Abstract

摘要

相似文献

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase associated with gout and uric acid lithiasis.与痛风和尿酸结石相关的次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶部分缺乏症。

Rev Eur Etud Clin Biol. 1970 Nov;15(9):942-7.

Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.莱施-奈恩综合征和痛风中的次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症。

Fed Proc. 1968 Jul-Aug;27(4):1047-52.

[Incidence of partial deficiency of hypoxanthine-guanine phosphoribosyl-transferase in a gouty population. Study of the 1st affected Italian family].[痛风人群中次黄嘌呤-鸟嘌呤磷酸核糖转移酶部分缺乏的发生率。对首个患病意大利家族的研究]

Schweiz Med Wochenschr. 1974 Oct 5;104(40):1411-6.

[Enzymopathic gout. Dyspurinia due to hypoxanthine-guanine-phosphoribosyl-transferase deficiency. Occurrence and clinical characteristics of enzyme repression].

Presse Med (1893). 1970 Mar 28;78(16):729-34.

[Hyperuricemia due to hypoxanthine-guanine-phosphoribosyltransferase deficiency].

Nouv Presse Med. 1974 Apr 20;3(16):995-9.

Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.痛风中的次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症

Ann Intern Med. 1969 Jan;70(1):155-206. doi: 10.7326/0003-4819-70-1-155.

An enzymatic basis for variation in response to allopurinol. Hypoxanthine-guanine phosphoribosyltransferase deficiency.别嘌醇反应差异的酶学基础。次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症。

N Engl J Med. 1968 Feb 8;278(6):287-93. doi: 10.1056/NEJM196802082780601.

Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.在大量痛风患者群体中X连锁部分次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症的罕见性。

Ann Intern Med. 1972 Feb;76(2):255-64. doi: 10.7326/0003-4819-76-2-255.

[Clinical and biological aspects of dyspurinia with enzyme deficiency].

Pathol Biol (Paris). 1970 Oct;18(19):881-6.

Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶。痛风患者中一种突变体的特征。

J Clin Invest. 1975 Nov;56(5):1239-49. doi: 10.1172/JCI108200.

引用本文的文献

Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man.对导致人类痛风和神经功能障碍的嘌呤代谢异常的分析。

Biochem J. 1998 Feb 1;329 ( Pt 3)(Pt 3):477-87. doi: 10.1042/bj3290477.

A reappraisal of the concept of an abnormality of glutamine metabolism in primary gout.对原发性痛风中谷氨酰胺代谢异常概念的重新评估。

Trans Am Clin Climatol Assoc. 1973;84:166-82.

The kinetics of intramolecular distribution of 15N in uric acid after administration of (15N) glycine. A reappraisal of the significance of preferential labeling of N-(3+9) of uric acid in primary gout.给予（15N）甘氨酸后尿酸中15N的分子内分布动力学。对原发性痛风中尿酸N-（3+9）优先标记意义的重新评估。

J Clin Invest. 1973 Oct;52(10):2468-85. doi: 10.1172/JCI107438.

Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.与嘌呤合成加速相关的次黄嘌呤-鸟嘌呤磷酸核糖转移酶变体

J Clin Invest. 1973 Sep;52(9):2234-40. doi: 10.1172/JCI107409.

Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.三例次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症的临床与生化观察

Ann Rheum Dis. 1975 Jun;34(3):249-55. doi: 10.1136/ard.34.3.249.

De novo synthesis of purine nucleotides in human peripheral blood leukocytes. Excessive activity of the pathway in hypoxanthine-guanine phosphoribosyltransferase deficiency.人外周血白细胞中嘌呤核苷酸的从头合成。次黄嘌呤-鸟嘌呤磷酸核糖基转移酶缺乏时该途径的活性过高。

J Clin Invest. 1976 Aug;58(2):289-97. doi: 10.1172/JCI108471.

Hypoxanthine-guanine phosphoribosyl transferase deficiency.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症

Hum Genet. 1976 Feb 29;31(2):127-50. doi: 10.1007/BF00296142.

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