相关实验视频

Updated: Jan 24, 2026

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
03:19

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes

Published on: June 28, 2024

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探索线粒体肌肉病变的结果测量;从对TK2缺乏症的纵向研究中的见解

Paloma Martín-Jimenez1,2, Laura Bermejo-Guerrero1,3, Luz Edith Ochoa1

  • 1Neuromuscular Diseases Unit, Neurology Department, Hospital Universitario 12 de Octubre, Madrid, Spain.

Journal of inherited metabolic disease
|January 22, 2026
PubMed
概括

晚期发病的蒂米丁激酶2缺乏症 (TK2d) 是一种渐进的线粒体肌肉病变. 这项研究定义了它的自然史,确定了未来对这种罕见疾病的治疗试验的关键结果.

关键词:
在GDF15中,GDF15是GDF15中的一个.在TK2缺陷中.生物标志物 生物标志物晚期发病的人群.线粒体肌肉病变 - 线粒体肌肉病变自然历史,自然历史.

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