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[先天性酶缺乏性高铁血红蛋白血症及其药物遗传学方面]

[Congenital enzymopenic methemoglobinemia and its pharmacogenetic aspects].

作者信息

Stanulović M, Gebauter E, Popović K, Velisavljev M

出版信息

Bilt Hematol Transfuz. 1977;5(3-4):75-80.

PMID:615613
Abstract

The authors report on their experience in nearly 10 years follow-up of four families with hereditary enzymopenic methemoglobinemia. In patients a dangerous elevation of methemoglobin level was never observed, what is probably due to the information of the patients and the family doctor about the nature of the patient's constitution. All gene--carriers were practically healthy. In one family 10 children died from convulsions as newborns. Mental retardation was not present in these four families.

摘要

作者报告了他们对四个患有遗传性酶缺乏性高铁血红蛋白血症家庭近10年的随访经验。在患者中,从未观察到高铁血红蛋白水平的危险升高,这可能是由于患者及其家庭医生了解了患者体质的性质。所有基因携带者实际上都很健康。在一个家庭中,10名儿童在新生儿期死于惊厥。这四个家庭中均未出现智力发育迟缓的情况。

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[Case of hereditary enzymopenic methemoglobinemia].
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