X连锁尿酸尿症（莱施-奈恩综合征及其变异型）中次黄嘌呤-鸟嘌呤磷酸核糖转移酶的遗传性缺乏。 - Suppr

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Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).

作者信息

Seegmiller J E

出版信息

Adv Hum Genet. 1976;6:75-163. doi: 10.1007/978-1-4615-8264-9_2.

DOI:10.1007/978-1-4615-8264-9_2

PMID:779428

Abstract

摘要

相似文献

Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).X连锁尿酸尿症（莱施-奈恩综合征及其变异型）中次黄嘌呤-鸟嘌呤磷酸核糖转移酶的遗传性缺乏。

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Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶部分缺乏伴莱施 - 奈恩综合征完全表现。

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The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HPRT）缺乏症的谱系。基于18个西班牙家庭的22例患者的临床经验。

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[Lesch-Nyhan syndrome: a new variant with hypoxanthine-guanine phosphoriboxyl transferase activity higher than the classical disease and detection of the heterozygote trait in the erythrocytes of the carrier].

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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

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Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure.

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A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome.莱施-奈恩综合征一种变体中次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT耶路撒冷型）保守的5-磷酸核糖-1-焦磷酸结合基序中的一种新型点突变（I137T）。

Mol Genet Metab. 2003 Feb;78(2):158-61. doi: 10.1016/s1096-7192(03)00002-7.

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Biochemical genetics of HPRT Cape Town: is the defect in the HPRT gene?次黄嘌呤磷酸核糖基转移酶（HPRT）的开普敦生化遗传学：HPRT基因存在缺陷吗？

J Inherit Metab Dis. 1988;11(1):114-22. doi: 10.1007/BF01800061.

Rapid prenatal diagnosis of HG-PRT deficiency using ultra-microchemical methods.使用超微化学方法对次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症进行快速产前诊断。

Hum Genet. 1977 Jun 30;37(2):195-200. doi: 10.1007/BF00393582.

Genetic epidemiology of Lesch-Nyhan disease.莱施-奈恩病的遗传流行病学

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Molecular and tissue-specific heterogeneity in HPRT deficiency.次黄嘌呤磷酸核糖转移酶缺乏症中的分子和组织特异性异质性。

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Developmental expression of murine HPRT. I. Activities, heat stabilities, and electrophoretic mobilities in adult tissues.小鼠次黄嘌呤磷酸核糖转移酶（HPRT）的发育表达。I. 成年组织中的活性、热稳定性和电泳迁移率

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Disassembly of microtubules in the Lesch-Nyhan Syndrome? (Lesch-Nyhan syndrome and microtubules).莱施-奈恩综合征中的微管解聚？（莱施-奈恩综合征与微管）

Klin Wochenschr. 1979 Feb 15;57(4):181-6. doi: 10.1007/BF01477406.

Mosaic mice with teratocarcinoma-derived mutant cells deficient in hypoxanthine phosphoribosyltransferase.带有源自畸胎癌的次黄嘌呤磷酸核糖基转移酶缺陷型突变细胞的嵌合体小鼠。

Proc Natl Acad Sci U S A. 1977 Dec;74(12):5564-8. doi: 10.1073/pnas.74.12.5564.

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