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在第二个十年的生物酶缺乏与非典型的神经成像发现

Vykuntaraju K Gowda¹, Amit Avaragollapuravarga Mathada¹, Varunvenkat M Srinivasan¹

¹Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

Advanced biomedical research

|August 11, 2023

概括

生物丁酶缺乏症是一种罕见的神经代谢障碍,可以导致严重的神经症状,如发作和发育迟缓. 早期诊断和治疗对于管理这种情况和预防不可逆转的损害至关重要.

科学领域:

神经学神经学
代谢障碍代谢障碍代谢障碍
遗传学是一个遗传学.

背景情况:

生物酶缺乏症是一种遗传性代谢障碍,影响生物代谢.
它通常通过生物补充剂来管理.

关键词:

在BTD基因变异中,BTD基因变异生物素是生物素中的一种.生物酶缺乏症生物酶缺乏症酶活性的酶活动.新生儿查新生儿查

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