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[DOI] [PMC free article] [PubMed] [Google Scholar] 48.Kim KS, Park HK, Lee JW, Kim YI, Shin MK

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

1g, Supplementary Fig