部分酶缺乏症：残余活性与神经障碍的发展
Partial enzyme deficiencies: residual activities and the development of neurological disorders.
作者信息
Conzelmann E, Sandhoff K
出版信息
Dev Neurosci. 1983;6(1):58-71. doi: 10.1159/000112332.
PMID:6421563
Abstract
A theoretical discussion on the correlation between residual enzyme activities in inherited enzyme deficiencies and the development of neurological disorders is presented, based on the kinetic analysis of a simple model. Several metabolic diseases with wide spectra of clinical presentation are discussed in relation to this model.
摘要
基于一个简单模型的动力学分析，本文对遗传性酶缺乏症中残余酶活性与神经障碍发展之间的相关性进行了理论探讨。结合该模型讨论了几种临床表现多样的代谢性疾病。
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