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Updated: Jun 16, 2025

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
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线粒体3 - - - - - - - - - 甲基氨基合酶A合成酶缺乏:从代谢到临床影响

Sarah C Grünert1, Matthias R Baumgartner2, Juliette Bouchereau3

  • 1Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.

Genetics in medicine : official journal of the American College of Medical Genetics
|June 14, 2025
PubMed
概括

线粒体3 - - 3 - 甲基 - - 同酶A合成酶缺乏症 (HMGCS2D) 是一种罕见的遗传疾病. 大多数受影响的个体经历了代谢失补偿,但幸存者通常具有正常的神经发育.

关键词:
在HMGCS2中使用.脂肪酸的催化作用脂肪酸的催化作用ketogenesis 是一种基因的形成.体的代谢 体的代谢体的合成 体的合成线粒体的3 - - 3 - 甲基 - - CoA合成酶 - 2缺乏.

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