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Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency

Seely D, Wu P, Fritz H, Kennedy DA, Tsui T, Seely AJ, Mills E

Indirect calorimetry showed that KO mice displayed a higher respiratory exchange ratio (RER), indicative of a shift toward carbohydrate utilization

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In AD, cerebrovascular dysfunction occurs earlier among E4 carriers (Veitch et al., 2019), which could lead to impairments in nutrient sensing and metabolite exchange between the brain and periphery, thereby negatively impacting brain bioenergetics by rendering brain areas of high energetic needs (e.g., the hippocampus) vulnerable to pathologies such as amyloid (Veitch et al., 2019