Congenital disorders of vitamin B12 transport and their contributions to concepts. II.
Congenital disorders of vitamin B12 transport and their contributions to concepts. II.
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先天性维生素 B12 运输障碍及其对概念的贡献。
DOI：
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发表时间：
1981
期刊：
影响因子：
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通讯作者：
C. Hall
中科院分区：
文献类型：
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作者：
C. Hall
维生素B12(B12，钴胺，Cbl)的转钴胺II(TC II)和R结合的先天性缺陷已在几个家庭中被描述。TC II的缺失至少存在三种变异体。TC II缺乏表现为出生后最初几周严重的巨幼细胞性全血细胞减少，但血清Cbl正常。与之相反，Cbl无R结合缺乏症状，组织充盈，但血清Cbl水平较低。几个身体来源中的所有R结合子都受到相同的基因控制。对于先天性TC II缺陷的研究表明：(1)TC II的功能是促进细胞摄取生理数量的Cbl，这也可以通过大量Cbl来实现，而不是通过任何细胞内过程来实现。(2)TC II对TC II的吸收、吸收后的分布和循环是必不可少的。(3)TC II缺乏的代谢后果主要表现在快速分裂的细胞中，可能是因为它们依赖于对新Cbl的持续需求。
Congenital deficiencies of Transcobalamin II (TC II) and R binders of vitamin B12 (B12, cobalamin, Cbl) have been described in several families. The deficiency of TC II exists as at least three variants. The deficiency of TC II is expressed by a profound megaloblastic pancytopenia during the first few weeks of life, but the serum Cbl is normal. In contrast, the deficiency of R binder is asymptomatic, tissues are replete in Cbl, but the serum Cbl is low. All of the R binder in the several body sources is under the same genetic control. Studies of the congenital deficiency TC II suggest the following: (1) The function of TC II is the promotion of cell uptake of physiologic amounts of Cbl, which can also be accomplished by very large amounts of Cbl, and not in any intracellular process. (2) TC II is essential for the absorption, postabsorptive distribution, and recycling of TC II. (3) The metabolic consequences of TC II deficiency are expressed primarily in rapidly dividing cells probably because they are dependent upon the constant need for new Cbl.
对患有巨幼细胞性贫血且转钴胺素 II 异常的患者的研究。
DOI：
10.1056/nejm198011203032105
发表时间：
1980
期刊：
The New England journal of medicine
影响因子：
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作者：
Seligman,PA;Steiner,LL;Allen,RH
通讯作者：
Allen,RH