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Updated: May 10, 2025

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YME1L1 功能障碍与3甲基葡萄糖酸性尿症相关

Anthi Demetriadou1, Olga Grafakou2, Theodoros Georgiou1

  • 1Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Journal of inherited metabolic disease
|April 21, 2025
PubMed
概括

3-甲基酸氨酸尿 (3-MGCA) 与一种新的YME1L1基因变异有关,导致线粒体功能障碍. 这一发现扩大了对遗传代谢障碍的理解,并有助于通过这种生物化学发现诊断疾病.

关键词:
3 - 甲基葡萄糖酸尿症.这就是YME1L1L1的意思.遗传性代谢障碍 遗传性代谢障碍 遗传性代谢障碍线粒体疾病 线粒体疾病线粒体功能障碍 线粒体功能障碍线粒体碎片化的分裂

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