两名匈牙利姐妹检测到的阿卡塔拉血症的特征。

Enzyme Pub Date : 1992-01-01 DOI:10.1159/000468797
L Góth
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引用次数: 17

摘要

在一个匈牙利家庭的2姐妹中检测到阿卡塔拉贫血。家族系谱显示,患者的孩子和他们的一个兄弟有低过氧化氢酶血症,而家族的其他成员血液过氧化氢酶活性正常。血液和组织过氧化氢酶的生化表征(过氧化氢酶活性、电泳迁移、等电点和酶稳定性)得出的过氧化氢酶形态与正常人没有区别。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Characterization of acatalasemia detected in two Hungarian sisters.

Acatalasemia was detected in 2 sisters of a Hungarian family. The pedigree of the family showed hypocatalasemia in the children of the patients and in 1 of their brothers, while the other members of the family had normal blood catalase activity. The biochemical characterization (catalase activity, electrophoretic migration, isoelectric point and enzyme stability) of the blood as well as tissue catalase of the acatalasemic patients yielded a catalase form which did not differ from normal.

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