次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症携带者检测的发根研究。 - Suppr

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Studies on hair roots for carrier detection in hypoxanthine-quanine phosphoribosyl transferase deficiency.

作者信息

de Bruyn C H, Oei T L, ter Haar B G

出版信息

Clin Genet. 1974;5(5):449-56. doi: 10.1111/j.1399-0004.1974.tb01718.x.

DOI:10.1111/j.1399-0004.1974.tb01718.x

PMID:4854466

Abstract

摘要

相似文献

Studies on hair roots for carrier detection in hypoxanthine-quanine phosphoribosyl transferase deficiency.次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症携带者检测的发根研究。

Clin Genet. 1974;5(5):449-56. doi: 10.1111/j.1399-0004.1974.tb01718.x.

An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). II. Genetic studies.

Clin Genet. 1973;4(4):353-9. doi: 10.1111/j.1399-0004.1973.tb01931.x.

Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes.X连锁酶葡萄糖-6-磷酸脱氢酶和次黄嘌呤鸟嘌呤磷酸核糖基转移酶的连锁关系：复合杂合子雌性后代中的重组

Am J Hum Genet. 1974 Jul;26(4):512-22.

Hypoxanthine-guanine phosphoribosyl transferase deficiency. Our experience.次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症。我们的经验。

Adv Exp Med Biol. 1973;41:271-9. doi: 10.1007/978-1-4684-3294-7_32.

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.

Adenine, hypoxanthine and guanine metabolism in fibroblasts from normal individuals and from patients with hypoxanthine phosphoribosyltransferase deficiency.

Biochim Biophys Acta. 1973 Mar 19;299(2):273-82. doi: 10.1016/0005-2787(73)90350-x.

Detection of the heterozygote in Lesch-Nyhan disease by hair-root analysis.通过发根分析检测莱施-尼汉病杂合子。

N Engl J Med. 1972 Feb 24;286(8):390-5. doi: 10.1056/NEJM197202242860802.

Erythrocyte PRPP concentrations in heterozygotes for HGPRTase deficiency.

Adv Exp Med Biol. 1973;41:291-5. doi: 10.1007/978-1-4684-3294-7_35.

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.

Lesch-Nyhan mutation: the influence of population density on purine phosphoribosyltransferase activities and exogenous purine utilization in monolayer cultures of skin fibroblasts.

J Cell Physiol. 1972 Aug;80(1):33-40. doi: 10.1002/jcp.1040800105.

引用本文的文献

Differentiation of hair growth cycle from scalp hair roots for the diagnosis of glucose-6-phosphate dehydrogenase deficiency in neonates.

J Inherit Metab Dis. 2000 Nov;23(7):693-704. doi: 10.1023/a:1005622728805.

Protein biosynthesis in cultured human hair follicle cells.培养的人毛囊细胞中的蛋白质生物合成

Mol Biol Rep. 1980 Oct 31;6(3):153-8. doi: 10.1007/BF00775409.

An enumerative assay of purine analogue resistant lymphocytes in women heterozygous for the Lesch-Nyhan Mutation.对莱施-奈恩突变杂合子女性中嘌呤类似物抗性淋巴细胞的计数分析。

Biochem Genet. 1980 Jun;18(5-6):529-47. doi: 10.1007/BF00484400.

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.

The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.X连锁隐性莱施-奈恩病中新突变的发生情况。

Am J Hum Genet. 1976 Mar;28(2):123-37.

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.

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.

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.

Determination of arylsulfatase C in hair follicles.毛囊中芳基硫酸酯酶C的测定。

Arch Dermatol Res. 1979 Aug;266(1):95-7. doi: 10.1007/BF00412868.

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