伴有神经症状的先天性高铁血红蛋白血症中NADH-高铁血红蛋白还原酶的全身性缺乏。
Generalized deficiency of the NADH-methemoglobin reductase in congenital methemoglobinemia with neurological symptoms.
作者信息
Jabłońska-Skwiecińska E, Holtorp-Tyszkiewiczowa J, Staniszewska K
出版信息
Biomed Biochim Acta. 1984;43(6):S98-100.
PMID:6487287
Abstract
Determination of the NADH-methemoglobin reductase (NADH-metHb-R) activity in red cells, lymphocytes and platelets of a two year old Polish girl with congenital methemoglobinemia and severe damage of the central nervous system, as well as in control subjects, was performed. The results permitted us to diagnose a rare case of the generalized deficiency of the NADH-metHb-R.
摘要
对一名患有先天性高铁血红蛋白血症和严重中枢神经系统损伤的两岁波兰女孩以及对照受试者的红细胞、淋巴细胞和血小板中的NADH-高铁血红蛋白还原酶（NADH-metHb-R）活性进行了测定。结果使我们能够诊断出一例罕见的NADH-metHb-R全身性缺乏症。
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