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对两名匈牙利姐妹中检测到的无过氧化氢酶血症的特征分析。

Characterization of acatalasemia detected in two Hungarian sisters.

作者信息

Góth L

机构信息

Laboratory Department, Municipal Hospital, Sümeg, Hungary.

出版信息

Enzyme. 1992;46(4-5):252-8. doi: 10.1159/000468797.

Abstract

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.

摘要

在一个匈牙利家庭的两姐妹中检测到了无过氧化氢酶血症。该家族的谱系显示,患者的子女及其一个兄弟存在低过氧化氢酶血症,而家族的其他成员血液过氧化氢酶活性正常。对无过氧化氢酶血症患者的血液以及组织过氧化氢酶进行生化特性分析(过氧化氢酶活性、电泳迁移率、等电点和酶稳定性),得到的过氧化氢酶形式与正常情况无异。

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