Studies of a patient with megaloblastic anemia and an abnormal transcobalamin II.
Studies of a patient with megaloblastic anemia and an abnormal transcobalamin II.
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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
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发表时间：
1980
期刊：
影响因子：
--
通讯作者：
Allen,RH
中科院分区：
文献类型：
--
作者：
Seligman,PA;Steiner,LL;Allen,RH
TRANSCOBALAMIN II是一种38,000道尔顿的血浆蛋白，具有钴胺素（维生素B12）的单一结合位点，是将钴胺素运输到各种组织的主要蛋白。1234表1列出了四例遗传缺乏转钴胺素II的特征，如前所述。567这些特征表明单纯的钴胺素缺乏症，但由于血清中约70%至90%的内源性钴胺素存在于被称为R蛋白的钴胺素结合蛋白上，而只有10%至30%的血清钴胺素与转钴胺素II结合，因此血清钴胺素水平均被认为是正常的。所有的病人都有……
TRANSCOBALAMIN II, a 38,000-dalton plasma protein, has a single binding site for cobalamin (vitamin B12) and functions as the major protein for transporting cobalamin to various tissues.1234Table 1 lists the characteristics of four cases of hereditary absence of transcobalamin II as previously described.567These characteristics suggested simple cobalamin deficiency, but since about 70 to 90 per cent of the endogenous cobalamin in serum is found on cobalamin-binding proteins known as R proteins,1and only 10 to 30 per cent of serum cobalamin is bound to transcobalamin II, the serum cobalamin levels were all considered normal. All the patients had . . .