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  1. 1
    Mitochondrial Encephalomyopathy Associated with Pyruvate Dehydrogenase Complex Deficiency: Eight Clinical Cases

    Mitochondrial Encephalomyopathy Associated with Pyruvate Dehydrogenase Complex Deficiency: Eight Clinical Cases by Ekaterina A. Nikolaeva, Svetlana Ya. Volgina, Chulpan D. Khaliullina, Sergey V. Bochenkov, Maria A. Danceva

    Published 2021-03-01
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  2. 2
    A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro

    A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro by Ying Li, Lin Cheng, Xin Li, Jiyu Liu, Lu Yi, Tao Bo

    Published 2025-03-01
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