Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family.

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作者信息

Kogut M D, Donnell G N, Nyhan W L, Sweetman L

出版信息

Am J Med. 1970 Feb;48(2):148-61. doi: 10.1016/0002-9343(70)90111-7.

DOI:10.1016/0002-9343(70)90111-7

PMID:5416258

Abstract

摘要

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Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family.

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Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.别嘌醇在次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏患者中的疗效与安全性。

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A new assay method for hypoxanthine-guanine phosphoribosyltransferase.一种次黄嘌呤-鸟嘌呤磷酸核糖转移酶的新检测方法。

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引用本文的文献

Hyperuricaemia and choreoathetosis in a child without mental retardation or self-mutilation - a new HPRT variant.一名无智力障碍或自残行为儿童的高尿酸血症和舞蹈手足徐动症——一种新的次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）变异型

J Inherit Metab Dis. 1982;5(4):183-6. doi: 10.1007/BF02179135.

Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶变体：临床表型与酶活性的相关性

J Inherit Metab Dis. 1981;4(4):203-6. doi: 10.1007/BF02263652.

The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis.通过圆盘凝胶电泳分离腺嘌呤和次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶同工酶。

Biochem Genet. 1971 Feb;5(1):81-90. doi: 10.1007/BF00485733.

Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme.一个次黄嘌呤-鸟嘌呤磷酸核糖转移酶部分缺乏家族中的同工酶

Biochem Genet. 1972 Aug;7(1):73-85. doi: 10.1007/BF00487011.

Juvenile gout.青少年痛风

Br Med J. 1972 Jan 15;1(5793):129-30.

Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome.莱施-奈恩综合征患者红细胞中次黄嘌呤-鸟嘌呤磷酸核糖转移酶的电泳特性

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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.

Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.正常酶对次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶变体的激活作用。

Proc Natl Acad Sci U S A. 1972 Sep;69(9):2523-6. doi: 10.1073/pnas.69.9.2523.

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.

Hypoxanthine-guanine phosphoribosyltransferase: mosaicism in the peripheral erythrocytes of heterozygote for a normal and a mutant enzyme.次黄嘌呤-鸟嘌呤磷酸核糖转移酶：正常酶和突变酶杂合子外周红细胞中的镶嵌现象。

Biochem Genet. 1976 Aug;14(7-8):587-93. doi: 10.1007/BF00485837.

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