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MeSH:(Pyruvate Dehydrogenase Complex Deficiency Disease/drug therapy/*genetics)

1.A Korean Female Patient with Thiamine-responsive Pyruvate Dehydrogenase Complex Deficiency Due to a Novel Point Mutation (Y161C)in the PDHA1 Gene.

Eun Ha LEE ; Mi Sun AHN ; Jin Soon HWANG ; Kyung Hwa RYU ; Sun Jun KIM ; Sung Hwan KIM

Journal of Korean Medical Science 2006;21(5):800-804

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