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Updated: Jan 16, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Published on: June 6, 2025

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对GOT2缺乏的综合基因型,表型和生物化学特征:一种进展性神经发育障碍,伴有和异常运动

Hannah M German1, Maha S Zaki2, Muhammad A Usmani3

  • 1Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.

Genetics in medicine : official journal of the American College of Medical Genetics
|September 26, 2025
PubMed
概括

GOT2缺乏症是一种影响线粒体功能的遗传疾病,在儿童中引起严重的发育和脑病变. 新的生物标志物,如低酸盐和高甘-3-酸盐,可能有助于诊断和治疗.

关键词:
是一种病.在GOT2中,GOT2是GOT2.马拉酸-阿斯巴酸的航天飞机线粒体疾病 线粒体疾病神经发育障碍是一种神经发育障碍.

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