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Naunyn-Schmiedeberg's Arch Pharmacol 399 , 31593188 (2026)

10.1016/j.fct.2013.01.042 45 KnigsM.LenczykM.SchwerdtG.HolzingerH.GekleM.HumpfH.-U

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency