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Updated: Jan 22, 2026

Spinal Hernia Repair and Cauda Equina Repositioning After Lumbar Decompression under Three-Dimensional Microscopy: A Case Report and Literature Review
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由IBA57基因突变引起的多重线粒体功能障碍综合征:一个病例报告和文献综述

Jia Xu1,2, Xin Zhang1,2, Ying Hua2

  • 1Linyi People's Hospital Affiliated to Shandong Second Medical University, Linyi, China.

Molecular genetics & genomic medicine
|January 20, 2026
PubMed
概括

这项研究确定了IBA57基因中的新型化合物异构体变体,导致严重的发育延迟和线粒体功能障碍. 早期遗传检测对于诊断和管理这些罕见的自体相衰退性疾病至关重要.

关键词:
在IBA57基因.这是一个MMDSMMDSMMDS.脑白细胞病变 (leukoencephalopathy) 是一种脑白细胞病变.线粒体疾病是线粒体疾病.

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