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Updated: Jun 15, 2025

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
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Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

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IARS2突变导致利氏综合征,并结合氧化酸化缺乏症

Qiyu Dong1, Xiaojie Yin1, Shuanglong Fan1

  • 1Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China.

Orphanet journal of rare diseases
|August 21, 2024
PubMed
概括

李氏综合征 (LS) 是一种线粒体疾病. 在IARS2基因的突变导致LS通过损害线粒体复合体I和III,影响细胞能量生产.

关键词:
在IARS2中.李氏综合征 (Leigh综合征) 是一种线粒体疾病 线粒体疾病奥克斯福斯 (OXPHOS) 是一个

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