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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
J Korean Med Sci.2006;21(5):800-804.   Published online 2006 October 31     DOI: http://dx.doi.org/10.3346/jkms.2006.21.5.800
      

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