Partial Suppression of BCAA Catabolism As a Potential Therapy for BCKDK Deficiency.

Laura Ohl, Amanda Kuhs, Ryan Pluck,Emily Durham,Michael Noji, Nathan D. Philip,Zoltan Arany,Rebecca C. Ahrens-Nicklas

MOLECULAR GENETICS AND METABOLISM REPORTS（2024）

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关键词

Inherited metabolic disorders,Molecular biochemistry,Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency,Pathogenic mechanism,Branched-chain amino acid (BCAA) catabolism,Genetic modulation

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