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晚期开始的克拉贝病呈现为性 - - GCase和CTSB/D的含义

Rebecca Mächtel1, Jan-Philipp Dobert1, Ute Hehr2

  • 1Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

Annals of clinical and translational neurology
|June 5, 2024
PubMed
概括

一名44岁男性的晚发性克拉贝病 (LOKD) 通过遗传和生物化学分析被诊断出来. 这一案例突出了 lysosomal 酶的相互作用,表明在 LOKD 病理学中发挥了更广泛的作用.

关键词:
Krabbe 疾病 病卡瑟普辛B B的情况卡瑟普辛 D D D D D 卡瑟普辛 D酶活性的酶活性.晚期发病的人群.这是一种β-glucocerebrosidase.

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