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Updated: May 23, 2025

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除化之外:探索GNE在GNE肌病中的多方面的作用

Beatriz L Pereira1, Mariana Barbosa1, Pedro Granjo1

  • 1Associate Laboratory i4HB-Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, 2829-516 Caparica, Portugal; UCIBIO-Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, 2829-516 Caparica, Portugal; CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, 2829-516 Caparica, Portugal.

Molecular genetics and metabolism
|March 7, 2025
PubMed
概括

基因内核肌病 (GNEM) 是由于基因内核基因突变导致的酸代谢缺陷引起的. 研究揭示了GNE.

关键词:
药物发展目标是药物开发的目标.在GNE神经病变上.代谢缺陷 代谢缺陷 代谢缺陷肌肉缩 肌肉缩 肌肉缩酸是酸的一种.

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