Complete deficiency of AMP deaminase in human erythrocytes.
Complete deficiency of AMP deaminase in human erythrocytes.
复制标题
人红细胞中 AMP 脱氨酶完全缺乏。
DOI：
10.1016/0006-291x(84)91239-7
复制
发表时间：
1984
影响因子：
3.1
通讯作者：
I. Hasegawa
中科院分区：
文献类型：
--
作者：
N. Ogasawara;H. Goto;Y. Yamada;I. Nishigaki;T. Itoh;I. Hasegawa
已发现4例完全缺乏红细胞AMP脱氨酶的患者。受试者看起来非常健康，没有溶血的证据。仅在红细胞中发现缺乏，正如预期的那样，单核细胞和血小板显示出正常水平的活性。所有其他嘌呤代谢酶的活性测试是正常的。该缺陷是作为常染色体隐性遗传性状遗传的。
Four individuals with complete absence of erythrocyte AMP deaminase have been discovered. The subjects appear to be perfectly healthy and there was no evidence of hemolysis. The deficiency was found only in erythrocytes and as expected, mononuclear cells and platelets showed normal level of activity. The activities of all the other purine metabolizing enzymes that were tested were normal. The deficiency is inherited as an autosomal recessive trait.