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Branched-chain 2-ketoacid dehydrogenase (BCKDH) deficiency (maple syrup urine disease; MSUD) causes lethal encephalopathy by disrupting cerebral metabolism, a process imperfectly reflected by circulating...
pubmed.ncbi.nlm.nih.gov
Systemic dual-gene therapy reverses biochemical intoxication in the central metabolic compartment of Bckdha-/- mice - PubMed
