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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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Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications

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
Abstract

Keywords:
HMGCS2KetogenesisKetone body metabolismKetone body synthesisMitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency

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