腺苷脱氨酶缺乏症和严重联合免疫缺陷患者红细胞中腺嘌呤脱氧核苷酸的鉴定与定量分析 - Suppr

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超能文献

Identification and quantitation of adenine deoxynucleotides in erythrocytes of a patient with adenosine deaminase deficiency and severe combined immunodeficiency.

作者信息

Coleman M S, Donofrio J, Hutton J J, Hahn L, Daoud A, Lampkin B, Dyminski J

出版信息

J Biol Chem. 1978 Mar 10;253(5):1619-26.

PMID:627559

Abstract

摘要

相似文献

Identification and quantitation of adenine deoxynucleotides in erythrocytes of a patient with adenosine deaminase deficiency and severe combined immunodeficiency.腺苷脱氨酶缺乏症和严重联合免疫缺陷患者红细胞中腺嘌呤脱氧核苷酸的鉴定与定量分析

J Biol Chem. 1978 Mar 10;253(5):1619-26.

Adenine and adenosine metabolism in lymphocytes deficient in adenosine deaminase (ADA) activity.腺苷脱氨酶（ADA）活性缺乏的淋巴细胞中的腺嘌呤和腺苷代谢

Adv Exp Med Biol. 1977;76A:456-62. doi: 10.1007/978-1-4613-4223-6_57.

A family of adenosine deaminase deficiency with severe combined immunodeficiency.

Jinrui Idengaku Zasshi. 1979 Jun;24(2):95-8. doi: 10.1007/BF01888926.

[Adenosine deaminase deficit in severe combined immunodeficiency (author's transl)].

Sangre (Barc). 1981;26(6):1129-38.

Inherited immunodeficiency diseases: relationship to lymphocyte metabolic dysfunction.遗传性免疫缺陷疾病：与淋巴细胞代谢功能障碍的关系

Prog Med Genet. 1979;3:177-219.

Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency.脱氧三磷酸腺苷作为腺苷脱氨酶缺乏症中一种潜在的有毒代谢物。

Proc Natl Acad Sci U S A. 1978 Jan;75(1):472-6. doi: 10.1073/pnas.75.1.472.

Overproduction of adenine deoxynucleosides and deoxynucletides in adenosine deaminase deficiency with severe combined immunodeficiency disease.腺苷脱氨酶缺乏伴重症联合免疫缺陷病中腺嘌呤脱氧核苷和脱氧核苷酸的过量产生。

J Clin Invest. 1978 Oct;62(4):884-7. doi: 10.1172/JCI109201.

Electrophoretic separation of erythrocyte adenosine deaminase in three families with severe combined immunodeficiency.三个重症联合免疫缺陷家庭中红细胞腺苷脱氨酶的电泳分离

Res Exp Med (Berl). 1978 Sep 25;173(3):219-28. doi: 10.1007/BF01851493.

Adenosine deaminase deficiency: disappearance of adenine deoxynucleotides from a patient's erythrocytes after successful marrow transplantation.腺苷脱氨酶缺乏症：成功进行骨髓移植后患者红细胞中腺嘌呤脱氧核苷酸的消失。

J Clin Invest. 1978 Dec;62(6):1386-9. doi: 10.1172/JCI109259.

Purine nucleoside metabolism in the erythrocytes of patients with adenosine deaminase deficiency and severe combined immunodeficiency.腺苷脱氨酶缺乏和严重联合免疫缺陷患者红细胞中的嘌呤核苷代谢

J Clin Invest. 1976 Apr;57(4):1025-35. doi: 10.1172/JCI108344.

引用本文的文献

Development of a Simple Assay Method for Adenosine Deaminase via Enzymatic Formation of an Inosine-Tb Complex.通过酶促形成次黄苷-Tb 配合物的方法来开发腺苷脱氨酶的简单测定方法。

Sensors (Basel). 2019 Jun 18;19(12):2728. doi: 10.3390/s19122728.

Adenosine deaminase deficiency: unanticipated benefits from the study of a rare immunodeficiency.腺苷脱氨酶缺乏症：对一种罕见免疫缺陷疾病研究的意外收获。

J Immunol. 2012 Feb 1;188(3):933-5. doi: 10.4049/jimmunol.1103519.

Restoration of adenosine deaminase-deficient human thymocyte development in vitro by inhibition of deoxynucleoside kinases.通过抑制脱氧核苷激酶在体外恢复腺苷脱氨酶缺陷型人类胸腺细胞发育

J Immunol. 2008 Dec 1;181(11):8153-61. doi: 10.4049/jimmunol.181.11.8153.

Evidence and possible consequences of the phosphorylation of nucleoside reverse transcriptase inhibitors in human red blood cells.人类红细胞中核苷类逆转录酶抑制剂磷酸化的证据及可能后果。

Antimicrob Agents Chemother. 2007 Jun;51(6):2105-11. doi: 10.1128/AAC.00831-06. Epub 2007 Apr 16.

Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency.腺苷脱氨酶（ADA）缺乏症的临床表型、遗传学及治疗

J Inherit Metab Dis. 1997 Jun;20(2):179-85. doi: 10.1023/a:1005300621350.

Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.7例腺苷脱氨酶缺陷型联合免疫缺陷病迟发/延迟发病患者中的新型剪接、错义及缺失突变。基因型对表型的影响。

J Clin Invest. 1993 Nov;92(5):2291-302. doi: 10.1172/JCI116833.

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.一名腺苷脱氨酶缺乏性免疫缺陷且有自发临床康复的患者中，新发现的剪接位点突变的体细胞镶嵌现象。

Am J Hum Genet. 1994 Jul;55(1):59-68.

Severe combined immunodeficiency and adenosine deaminase deficiency: failure of enzyme replacement therapy.严重联合免疫缺陷与腺苷脱氨酶缺乏：酶替代疗法的失败

Arch Dis Child. 1980 Jun;55(6):452-7. doi: 10.1136/adc.55.6.452.

Biochemical and functional abnormalities in lymphocytes from an adenosine deaminase-deficient patient during enzyme replacement therapy.腺苷脱氨酶缺乏症患者在酶替代治疗期间淋巴细胞的生化及功能异常

J Clin Invest. 1981 Aug;68(2):413-21. doi: 10.1172/jci110270.

[Adenosine deaminase activity in Hodgkin's disease (author's transl)].霍奇金病中的腺苷脱氨酶活性（作者译）

Klin Wochenschr. 1982 Mar;60(6):317-8. doi: 10.1007/BF01716809.

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