Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region (Q44178939)

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scientific article published in October 2002
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Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region
scientific article published in October 2002

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    Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region (English)
    Etsuo Naito
    Michinori Ito
    Ichiro Yokota
    Takahiko Saijo
    Junko Matsuda
    Yukiko Ogawa
    Seiko Kitamura
    Eiko Takada
    Yoshihiro Horii
    Yasuhiro Kuroda
    1 October 2002
    79-84

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