腺苷一磷酸焦磷酸磷酸核糖基转移酶缺陷的完整红细胞中的腺嘌呤和腺苷代谢：对两个家族的研究 - Suppr

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Adenine and adenosine metabolism in intact erythrocytes deficient in adenosine monophosphate-pyrophosphate phosphoribosyltransferase: a study of two families.

作者信息

Dean B M, Perrett D, Simmonds H A, Sahota A, Van Acker K J

出版信息

Clin Sci Mol Med. 1978 Oct;55(4):407-12. doi: 10.1042/cs0550407.

DOI:10.1042/cs0550407

PMID:710055

Abstract

摘要

相似文献

Adenine and adenosine metabolism in intact erythrocytes deficient in adenosine monophosphate-pyrophosphate phosphoribosyltransferase: a study of two families.腺苷一磷酸焦磷酸磷酸核糖基转移酶缺陷的完整红细胞中的腺嘌呤和腺苷代谢：对两个家族的研究

Clin Sci Mol Med. 1978 Oct;55(4):407-12. doi: 10.1042/cs0550407.

Purine synthesis and excretion in mutants of the WI-L2 human lymphoblastoid line deficient in adenosine kinase (AK) and adenine phosphoribosyltransferase (APRT).腺苷激酶（AK）和腺嘌呤磷酸核糖转移酶（APRT）缺陷的WI-L2人淋巴母细胞系突变体中的嘌呤合成与排泄

Adv Exp Med Biol. 1977;76A:303-13. doi: 10.1007/978-1-4613-4223-6_38.

Incorporation of adenosine and adenine into hypoxanthine nucleotides of fresh red blood cells.腺苷和腺嘌呤掺入新鲜红细胞的次黄嘌呤核苷酸中。

Blut. 1986 Oct;53(4):347-50. doi: 10.1007/BF00320895.

Screening for adenine and hypoxanthine phosphoribosyltransferase deficiencies in human erythrocytes by high-performance liquid chromatography.通过高效液相色谱法筛查人类红细胞中的腺嘌呤和次黄嘌呤磷酸核糖基转移酶缺陷。

Clin Chim Acta. 1987 Dec;170(2-3):281-9. doi: 10.1016/0009-8981(87)90138-0.

Erythrocyte adenine PRPP availability in two types of APRT deficiency using silicon oil method.采用硅油法测定两种类型腺嘌呤磷酸核糖转移酶（APRT）缺乏症患者红细胞中腺嘌呤磷酸核糖焦磷酸（PRPP）的可用性。

Adv Exp Med Biol. 1989;253A:35-41. doi: 10.1007/978-1-4684-5673-8_6.

Adenine and adenosine metabolism in phytohemagglutinin (PHA) - stimulated and unstimulated normal human lymphocytes.

Adv Exp Med Biol. 1977;76A:448-55. doi: 10.1007/978-1-4613-4223-6_56.

Purine reutilization and synthesis de novo in APRT deficient long-term lymphocyte lines.

Monogr Hum Genet. 1978;10:108-11. doi: 10.1159/000401577.

Adenine and adenosine are toxic to human lymphoblast mutants defective in purine salvage enzymes.腺嘌呤和腺苷对嘌呤补救酶有缺陷的人类淋巴母细胞突变体有毒性。

Science. 1977 Sep 23;197(4310):1284-7. doi: 10.1126/science.197600.

Contrast in adenine uptake by chicken and rabbit erythrocytes in vitro.

Comp Biochem Physiol Comp Physiol. 1992 Oct;103(2):291-6. doi: 10.1016/0300-9629(92)90582-b.

Problems in diagnosis and treatment of adenine and hypoxanthine-guanine phosphoribosyltransferase deficiency.

Adv Exp Med Biol. 1984;165 Pt A:1-6. doi: 10.1007/978-1-4684-4553-4_1.

引用本文的文献

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.腺嘌呤磷酸核糖基转移酶缺陷的表型和基因型特征。

J Am Soc Nephrol. 2010 Apr;21(4):679-88. doi: 10.1681/ASN.2009080808. Epub 2010 Feb 11.

Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.

Hum Genet. 1985;71(2):167-70. doi: 10.1007/BF00283376.

Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.来自四个不同日本家族的与部分酶缺陷相关的2,8 - 二羟基腺嘌呤尿路结石的突变腺嘌呤磷酸核糖转移酶的共同特征。

Hum Genet. 1985;71(2):171-6. doi: 10.1007/BF00283377.

HPRT-deficiency associated with normal PRPP concentration and APRT activity.与正常磷酸核糖焦磷酸（PRPP）浓度和腺嘌呤磷酸核糖转移酶（APRT）活性相关的次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）缺乏症

J Inherit Metab Dis. 1987;10(1):82-8. doi: 10.1007/BF01799493.

2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.

Am J Hum Genet. 1991 May;48(5):983-9.

Immunological investigation in adenine phosphoribosyl transferase (APRT) deficiency.腺嘌呤磷酸核糖转移酶（APRT）缺乏症的免疫学研究

Clin Exp Immunol. 1979 Jun;36(3):364-70.

Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.腺嘌呤磷酸核糖转移酶完全缺乏：一名幼儿出现肾结石的第三例病例。

Arch Dis Child. 1979 Jan;54(1):25-31. doi: 10.1136/adc.54.1.25.

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