[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].

作者信息

Hernández Nieto L, Nyhan W L, Page T, Cubillo Ferreira G, Rodríguez Fernández M, González García T, Cabrera de León A, Santolaria Fernández F J

出版信息

Med Clin (Barc). 1985 Jan 19;84(2):68-71.

PMID:3974350

Abstract

摘要

相似文献

[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].

Med Clin (Barc). 1985 Jan 19;84(2):68-71.

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。

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

Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.次黄嘌呤-鸟嘌呤磷酸核糖转移酶：莱施-奈恩综合征患者红细胞中突变酶的特征

J Clin Invest. 1972 Jul;51(7):1805-12. doi: 10.1172/JCI106982.

A female case of the Leach-Nyhan syndrome.一例女性利奇-尼汉综合征病例。

Tohoku J Exp Med. 1982 Jul;137(3):275-82. doi: 10.1620/tjem.137.275.

Prenatal diagnosis of Lesch-Nyhan syndrome and some characteristics of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in human tissues and cultivated cells.莱施-奈恩综合征的产前诊断以及人体组织和培养细胞中次黄嘌呤-鸟嘌呤磷酸核糖转移酶和腺嘌呤磷酸核糖转移酶的一些特性

Pediatr Res. 1980 Jun;14(6):825-9. doi: 10.1203/00006450-198006000-00010.

Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phophoribosyl transferase in families of Lesch--Nyhan patients.莱施-奈恩综合征患者家族中腺嘌呤磷酸核糖转移酶缺乏与次正常的次黄嘌呤磷酸核糖转移酶相关。

Biochem Med. 1978 Apr;19(2):252-9. doi: 10.1016/0006-2944(78)90027-3.

Two populations of heterozygote erythrocytes in moderate hypoxanthine guanine phosphoribosyltransferase deficiency.

Nature. 1976 Nov 11;264(5582):172-4. doi: 10.1038/264172a0.

[Lesch-Nyhan disease studied in intact fibroblasts].[在完整成纤维细胞中研究的莱施-奈恩病]

An Esp Pediatr. 1983 May;18(5):394-8.

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。

Hum Genet. 1981;57(1):39-47. doi: 10.1007/BF00271165.

[A new form of the Lesch-Nyhan syndrome. A study of hypoxanthine-guanine-phosphoribosyl-transferase in fibroblasts. The in vitro and in vivo effect of adenine on enzyme activity].[一种新形式的莱施-奈恩综合征。成纤维细胞中次黄嘌呤-鸟嘌呤磷酸核糖转移酶的研究。腺嘌呤对酶活性的体外和体内影响]

Ann Biol Clin (Paris). 1982;40(5):561-6.

引用本文的文献

The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.

J Inherit Metab Dis. 1997 Jun;20(2):171-8. doi: 10.1023/a:1005348504512.

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