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

por Lee, Eun-Ha, Ahn, Mi-Sun, Hwang, Jin-Soon, Ryu, Kyung-Hwa, Kim, Sun-Jun, Kim, Sung-Hwan
Publicado 2006