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The accumulation of these metabolites in mutant muscles further supports the notion of altered OXPHOS, which is compensated by increased glycolysis

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[PubMed] [Google Scholar] 290.Kadian R, Patel P, Kumar A

Familial hypercholesterolaemia (FH) Familial hypercholesterolaemia (FH) is a group of inherited genetic defects leading to increased concentrations of low-density lipoprotein (LDL-C) and, secondarily, total cholesterol (TC), with elevated LDL-C being one of the main diagnostic criteria [155]

JCI Insight 6(7) 2021 PMC8119181 Dharmarajan S, Speer MY, Pierce K, Lally J, Leaf EM, Lin ME, Scatena M, Giachelli CM