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Oncologist 22:1154-e105

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With safety in mind, given the unknown impact of KD on patients with FH and the many potentially conflicting indirect data that may determine that impact, familial hypercholesterolaemia should be considered a relative contraindication to KD until these questions are resolved

Identification of a novel trifunctional homoisocitrate dehydrogenase and modulation of the broad substrate specificity through site-directed mutagenesis

This fosters a better understanding and promotes informed discussions among clinicians, ultimately aiming to enhance early and precise diagnosis, thus improving patient management and outcomes

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