腺苷脱氨酶缺乏症与重症联合免疫缺陷综合征。 - Suppr

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Adenosine-deaminase deficiency and severe combined immunodeficiency syndrome.

作者信息

Ochs H D, Yount J E, Giblett E R, Chen S H, Scott C R, Wedgwood R J

出版信息

Lancet. 1973 Jun 16;1(7816):1393-4. doi: 10.1016/s0140-6736(73)91725-x.

DOI:10.1016/s0140-6736(73)91725-x

PMID:4122786

Abstract

摘要

相似文献

Adenosine-deaminase deficiency and severe combined immunodeficiency syndrome.腺苷脱氨酶缺乏症与重症联合免疫缺陷综合征。

Lancet. 1973 Jun 16;1(7816):1393-4. doi: 10.1016/s0140-6736(73)91725-x.

Adenosine-deaminase deficiency and combined immunodeficiency syndrome.腺苷脱氨酶缺乏与联合免疫缺陷综合征

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Adenosine deaminase deficiency in a child with severe combined immunodeficiency.一名患有严重联合免疫缺陷的儿童出现腺苷脱氨酶缺乏。

Clin Genet. 1973;4(4):344-7. doi: 10.1111/j.1399-0004.1973.tb01929.x.

Letter: Autosomal assignment of the gene for the form of adenosine deaminase which is deficient in patients with combined immunodeficiency syndrome.信函：腺苷脱氨酶基因的常染色体定位，该酶在联合免疫缺陷综合征患者中缺乏。

Lancet. 1973 Dec 22;2(7843):1449. doi: 10.1016/s0140-6736(73)92850-x.

Adenosine deaminase deficiency: the first inborn error of metabolism noted in immunodeficiency disease.腺苷脱氨酶缺乏症：免疫缺陷疾病中首个被发现的先天性代谢缺陷。

J Pediatr. 1974 Feb;84(2):315-6. doi: 10.1016/s0022-3476(74)80655-4.

Severe combined immunodeficiency and adenosine deaminase deficiency.重症联合免疫缺陷与腺苷脱氨酶缺乏症

N Engl J Med. 1975 Apr 3;292(14):714-9. doi: 10.1056/NEJM197504032921402.

Screening for ADA deficiency.腺苷脱氨酶缺乏症筛查。

J Pediatr. 1974 Dec;85(6):802-4. doi: 10.1016/s0022-3476(74)80344-6.

Immunodeficiency syndromes associated with inherited metabolic disorders.

Clin Haematol. 1981 Feb;10(1):139-59.

[Primary immunologic deficiency and enzyme deficiency].

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Absence of erythrocyte adenosine deaminase associated with severe combined immunodeficiency.红细胞腺苷脱氨酶缺乏与严重联合免疫缺陷相关。

J Pediatr. 1974 Feb;84(2):173-7. doi: 10.1016/s0022-3476(74)80597-4.

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Adenosine metabolism and receptors in aging of the skin, musculoskeletal, immune and cardiovascular systems.皮肤、肌肉骨骼、免疫和心血管系统衰老过程中的腺苷代谢与受体

Ageing Res Rev. 2025 Apr;106:102695. doi: 10.1016/j.arr.2025.102695. Epub 2025 Feb 17.

Inborn Errors of Nucleoside Transporter (NT)-Encoding Genes ( and ).先天性核苷转运体（NT）编码基因（和）缺陷。

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Inborn errors of purine and pyrimidine metabolism.嘌呤和嘧啶代谢的先天性缺陷。

J Inherit Metab Dis. 2009 Apr;32(2):247-63. doi: 10.1007/s10545-009-1094-z. Epub 2009 Mar 15.

Detection of the carrier state in combined immunodeficiency disease associated with adenosine deaminase deficiency.与腺苷脱氨酶缺乏相关的联合免疫缺陷病携带者状态的检测。

J Clin Invest. 1974 Apr;53(4):1194-6. doi: 10.1172/JCI107658.

Adenosine deaminase: demonstration of a "silent" gene associated with combined immunodeficiency disease.腺苷脱氨酶：与联合免疫缺陷病相关的“沉默”基因的证明。

Am J Hum Genet. 1974 Jan;26(1):103-7.

Conversion of human erythrocyte-adenosine deaminase activity to different tissue-specific isozymes. Evidence for a common catalytic unit.人红细胞腺苷脱氨酶活性向不同组织特异性同工酶的转化。关于共同催化单位的证据。

J Clin Invest. 1975 Mar;55(3):661-7. doi: 10.1172/JCI107974.

Purine metabolism in adenosine deaminase deficiency.腺苷脱氨酶缺乏症中的嘌呤代谢

Proc Natl Acad Sci U S A. 1976 Aug;73(8):2867-71. doi: 10.1073/pnas.73.8.2867.

[Adenosine deaminase deficiency in primary immunodeficiencies (author's transl)].原发性免疫缺陷中的腺苷脱氨酶缺乏症（作者译）

Klin Wochenschr. 1976 Dec 1;54(23):1109-15. doi: 10.1007/BF01469254.

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.

Adenosine deaminase activity in erythrocytes, lymphocytes, polymorphonuclear neutrophil leucocytes and cultured cells: a possible role in the immune response.红细胞、淋巴细胞、多形核中性粒细胞和培养细胞中的腺苷脱氨酶活性：在免疫反应中的可能作用。

J Inherit Metab Dis. 1978;1(1):43-5. doi: 10.1007/BF01805716.

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