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Red-blood-cell adenosine deaminase deficiency in a "healthy" Kung individual.

作者信息

Jenkins T

出版信息

Lancet. 1973 Sep 29;2(7831):736. doi: 10.1016/s0140-6736(73)92568-3.

DOI:10.1016/s0140-6736(73)92568-3
PMID:4125820
Abstract
摘要

相似文献

1
Red-blood-cell adenosine deaminase deficiency in a "healthy" Kung individual.一名“健康”的昆族人红细胞腺苷脱氨酶缺乏症
Lancet. 1973 Sep 29;2(7831):736. doi: 10.1016/s0140-6736(73)92568-3.
2
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.
3
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.
4
Adenosine-deaminase deficiency and combined immunodeficiency syndrome.腺苷脱氨酶缺乏与联合免疫缺陷综合征
Lancet. 1972 Dec 16;2(7790):1316. doi: 10.1016/s0140-6736(72)92692-x.
5
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.
6
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.
7
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.
8
Further data on the adenosine deaminase (ADA) polymprphism and a report of a new phenotype.腺苷脱氨酶(ADA)多态性的更多数据及一种新表型的报告。
Ann Hum Genet. 1969 May;32(4):361-7. doi: 10.1111/j.1469-1809.1969.tb00087.x.
9
Red cell adenosine deaminase (ADA) polymorphism in Southern Africa, with special reference to ADA deficiency among the !Kung.南部非洲红细胞腺苷脱氨酶(ADA)多态性,特别提及昆族中的ADA缺乏症。
Ann Hum Genet. 1979 May;42(4):425-33. doi: 10.1111/j.1469-1809.1979.tb00676.x.
10
Evidence for control of several different tissue-specific isozymes of adenosine deaminase by a single genetic locus.单一基因座控制腺苷脱氨酶几种不同组织特异性同工酶的证据。
Nat New Biol. 1973 Dec 19;246(155):200-2. doi: 10.1038/newbio246200a0.

引用本文的文献

1
Genetic heterogeneity in partial adenosine deaminase deficiency.部分腺苷脱氨酶缺乏症中的遗传异质性。
J Clin Invest. 1983 Jun;71(6):1887-92. doi: 10.1172/jci110944.
2
Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation.具有正常免疫功能的腺苷脱氨酶缺乏症。一种酸性酶突变。
J Clin Invest. 1983 Aug;72(2):483-92. doi: 10.1172/jci110996.
3
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.
4
Public health and genetic constitution of the San ("Bushmen"): carbohydrate metabolism and acetylator status of the Kung of Tsumkwe in the North-western Kalahari.桑人(“布须曼人”)的公共卫生与基因构成:卡拉哈里沙漠西北部楚梅布的昆人的碳水化合物代谢与乙酰化状态
Br Med J. 1974 Apr 6;2(5909):23-6. doi: 10.1136/bmj.2.5909.23.
5
Genetical load in man.人类的遗传负荷
Humangenetik. 1974 Jul 15;23(2):83-110. doi: 10.1007/BF00282207.
6
Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency.腺苷脱氨酶(ADA)缺乏症中的遗传异质性:5例部分ADA缺乏症新患者中的5种不同突变
Am J Hum Genet. 1986 Jan;38(1):13-25.
7
Partial adenosine deaminase deficiency: another family from southern Africa.部分腺苷脱氨酶缺乏症:来自非洲南部的另一个家族。
Hum Genet. 1986 Nov;74(3):307-12. doi: 10.1007/BF00282554.
8
Combined familial adenosine deaminase and purine nucleoside phosphorylase deficiencies.家族性腺苷脱氨酶和嘌呤核苷磷酸化酶联合缺乏症
Arch Dis Child. 1988 Aug;63(8):931-4. doi: 10.1136/adc.63.8.931.
9
Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.
J Clin Invest. 1990 Aug;86(2):444-52. doi: 10.1172/JCI114730.
10
Heterogeneity for adenosine deaminase deficiency: Expression of the enzyme in cultured skin fibroblasts and amniotic fluid cells.腺苷脱氨酶缺乏症的异质性:该酶在培养的皮肤成纤维细胞和羊水细胞中的表达。
Am J Hum Genet. 1975 Jan;27(1):46-52.