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Here we show, for the first time, that biallelic variants in BBOX1 are associated with decreased levels of L-carnitine and increased plasma levels of -BB in three patients from two unrelated families presenting with myopathic, neurodevelopmental, and late-onset psychiatric manifestations

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PMID 27035000

Description 5-Amino-1MQ: Investigating the Bioenergetics of NNMT Inhibition 5-Amino-1MQ is a highly selective, membrane-permeable molecule designed to address metabolic dysfunction at the enzymatic level