X连锁先天性高尿酸尿症中未成熟血细胞的次黄苷酸焦磷酸化酶活性 - Suppr

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Inosinate pyrophosphorylase activity in immature blood cells in X-linked congenital hyperuricosuria.

作者信息

Dancis J, Jansen V, Berman P H, Balis M E

出版信息

Biochem Genet. 1969 Aug;3(4):311-6. doi: 10.1007/BF00485715.

DOI:10.1007/BF00485715

PMID:5365507

Abstract

摘要

相似文献

Inosinate pyrophosphorylase activity in immature blood cells in X-linked congenital hyperuricosuria.X连锁先天性高尿酸尿症中未成熟血细胞的次黄苷酸焦磷酸化酶活性

Biochem Genet. 1969 Aug;3(4):311-6. doi: 10.1007/BF00485715.

Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria.X连锁先天性高尿酸尿症患者淋巴细胞中不存在嵌合体现象。

Life Sci. 1968 Jun 15;7(12):587-91. doi: 10.1016/0024-3205(68)90079-9.

Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells.杂合人类细胞中X连锁高尿酸血症位点的单等位基因表达。

Proc Natl Acad Sci U S A. 1968 Jun;60(2):545-52. doi: 10.1073/pnas.60.2.545.

X-linked primary hyperuricaemia (hypoxanthine-guanine phosphoribosyltransferase deficiency encephalopathy.X连锁原发性高尿酸血症（次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏性脑病）

J Ment Defic Res. 1968 Jun;12(2):100-7. doi: 10.1111/j.1365-2788.1968.tb00248.x.

Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation.对10个患有次黄嘌呤鸟嘌呤磷酸核糖转移酶（HGPRT）缺乏症的家族的皮肤成纤维细胞进行研究，并参考X染色体失活情况。

Am J Hum Genet. 1971 Mar;23(2):199-210.

Diploid azaguanine-resistant mutants of cultured human fibroblasts.

Science. 1970 Jul 31;169(3944):482-5.

Diploid azaguanine-resistant mutants of cultured human fibroblasts.

Science. 1970 Jul 31;169(3944):482-5.

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.

Substrate stabilization: genetically-controlled reciprocal relationship between two enzymes.底物稳定作用：两种酶之间的基因控制的相互关系。

Ann Rheum Dis. 1971 May;30(3):326-7. doi: 10.1136/ard.30.3.326-b.

Biochemically marked lymphocytoid lines: establishment of Lesch-Nyhan cells.生物化学标记的类淋巴细胞系：莱施-奈恩细胞的建立。

Science. 1970 Oct 2;170(3953):89-90. doi: 10.1126/science.170.3953.89.

引用本文的文献

[Lesch-Nyhan syndrome. Heterozygote detection by biochemical selection of the mutant cells and autoradiography].[莱施-奈恩综合征。通过突变细胞的生化筛选和放射自显影检测杂合子]

Humangenetik. 1972;15(2):126-35. doi: 10.1007/BF00295739.

本文引用的文献

Enzymatic synthesis and properties of 5-phosphoribosylpyrophosphate.5-磷酸核糖焦磷酸的酶促合成及其性质

J Biol Chem. 1955 Jul;215(1):389-402.

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.一种尿酸代谢与中枢神经系统功能的家族性疾病。

Am J Med. 1964 Apr;36:561-70. doi: 10.1016/0002-9343(64)90104-4.

Culture of human white cells using differential leucocyte separation.使用白细胞分类分离法进行人白细胞培养。

Nature. 1961 Dec 23;192:1214-5. doi: 10.1038/1921214a0.

Liquid emulsion autoradiography with tritium.氚液乳剂放射自显影术

Lab Invest. 1959 Jan-Feb;8(1):131-6; discussion 136-8.

Xanthine phosphoribosyltransferase in man: relationship to hypoxanthine-guanine phosphoribosyltransferase.人类中的黄嘌呤磷酸核糖基转移酶：与次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶的关系。

Biochem Biophys Res Commun. 1967 Aug 7;28(3):340-5. doi: 10.1016/0006-291x(67)90315-4.

Biochemical evidence for a distinct type of primary gout.原发性痛风一种独特类型的生化证据。

Nature. 1967 Mar 18;213(5081):1122-3. doi: 10.1038/2131122b0.

Urinary metabolites in congenital hyperuricosuria.先天性高尿酸尿症中的尿液代谢产物

Science. 1967 May 26;156(3778):1122-3. doi: 10.1126/science.156.3778.1122.

Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.与一种X连锁人类神经疾病及嘌呤过度合成相关的酶缺陷。

Science. 1967 Mar 31;155(3770):1682-4. doi: 10.1126/science.155.3770.1682.

Congenital hyperuricemia. An inborn error of purine metabolism associated with psychomotor retardation, athetosis, and self-mutilation.先天性高尿酸血症。一种与精神运动发育迟缓、手足徐动症和自残行为相关的嘌呤代谢先天性缺陷。

Arch Neurol. 1969 Jan;20(1):44-53. doi: 10.1001/archneur.1969.00480070054006.

Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria.X连锁先天性高尿酸尿症患者淋巴细胞中不存在嵌合体现象。

Life Sci. 1968 Jun 15;7(12):587-91. doi: 10.1016/0024-3205(68)90079-9.

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