Rapid prenatal diagnosis of adenosine deaminase deficiency and other purine disorders using foetal blood.

Suppr

超能文献

作者信息

Simmonds H A, Fairbanks L D, Webster D R, Rodeck C H, Linch D C, Levinsky R J

出版信息

Biosci Rep. 1983 Jan;3(1):31-8. doi: 10.1007/BF01121568.

DOI:10.1007/BF01121568

PMID:6839009

Abstract

摘要

相似文献

Rapid prenatal diagnosis of adenosine deaminase deficiency and other purine disorders using foetal blood.

Biosci Rep. 1983 Jan;3(1):31-8. doi: 10.1007/BF01121568.

Early prenatal investigation of a pregnancy at risk of adenosine deaminase deficiency using chorionic villi.利用绒毛膜对存在腺苷脱氨酶缺乏风险的妊娠进行早期产前检查。

J Med Genet. 1986 Feb;23(1):52-4. doi: 10.1136/jmg.23.1.52.

Nucleotide metabolism in cultured T cells and in cells of patients deficient in adenosine deaminase and purine nucleoside phosphorylase.培养的T细胞以及腺苷脱氨酶和嘌呤核苷磷酸化酶缺乏患者的细胞中的核苷酸代谢。

Ciba Found Symp. 1978(68):101-14. doi: 10.1002/9780470720516.ch7.

Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency.嘌呤代谢与免疫缺陷：尿嘌呤排泄作为腺苷脱氨酶和嘌呤核苷磷酸化酶缺乏症的诊断筛查试验

Clin Sci Mol Med. 1978 May;54(5):579-84. doi: 10.1042/cs0540579.

Correlations between purine levels, clinical and immunological status in ADA deficiency.

Adv Exp Med Biol. 1986;195 Pt A:93-9. doi: 10.1007/978-1-4684-5104-7_15.

New perspectives in the diagnosis and treatment of adenosine deaminase (ADA) deficiency.腺苷脱氨酶（ADA）缺乏症诊断与治疗的新视角。

Adv Exp Med Biol. 1984;165 Pt A:33-8. doi: 10.1007/978-1-4684-4553-4_7.

Adenosine deaminase and purine nucleoside phosphorylase deficiency: how they were discovered and what they may mean.腺苷脱氨酶和嘌呤核苷磷酸化酶缺乏症：它们是如何被发现的以及可能意味着什么。

Ciba Found Symp. 1978(68):3-18. doi: 10.1002/9780470720516.ch2.

Adenosine deaminase activity in a series of 19 patients with the Diamond-Blackfan syndrome.19例先天性纯红细胞再生障碍性贫血患者的腺苷脱氨酶活性

Adv Exp Med Biol. 1986;195 Pt A:85-92. doi: 10.1007/978-1-4684-5104-7_14.

Urinary excretion of purines, purine nucleosides, and pseudouridine in adenosine deaminase deficiency.

Biochem Med. 1978 Oct;20(2):180-99. doi: 10.1016/0006-2944(78)90065-0.

[Immunological failure caused by adenosine deaminase deficiency].[腺苷脱氨酶缺乏导致的免疫功能衰竭]

Acta Haematol Pol. 1979 Jul-Sep;10(3):205-10.

引用本文的文献

Prenatal diagnosis of three cases of severe combined immunodeficiency: severe T cell deficiency during the first half of gestation in fetuses with adenosine deaminase deficiency.三例重症联合免疫缺陷的产前诊断：腺苷脱氨酶缺乏胎儿在妊娠前半期严重T细胞缺乏。

Clin Exp Immunol. 1984 May;56(2):223-32.

B cells as well as T cells form deoxynucleotides from either deoxyadenosine or deoxyguanosine.B细胞和T细胞均可利用脱氧腺苷或脱氧鸟苷形成脱氧核苷酸。

Clin Exp Immunol. 1984 Apr;56(1):39-48.

Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency.腺苷脱氨酶缺乏所致重症联合免疫缺陷中生化、临床及免疫学参数的异质性。

Clin Exp Immunol. 1987 Dec;70(3):491-9.

Prenatal exclusion of purine nucleoside phosphorylase deficiency.

Eur J Pediatr. 1986 Apr;145(1-2):51-3. doi: 10.1007/BF00441852.

Prenatal diagnosis of enzyme defects.酶缺陷的产前诊断

Arch Dis Child. 1990 Jan;65(1 Spec No):59-67. doi: 10.1136/adc.65.1_spec_no.59.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验