Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.
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M. Tesařová | J. Zeman | M. Vaněčková | T. Honzík | V. Smolka | H. Hansíková | P. Ješina | Z. Hájková | L. Wenchich | M. Magner | K. Vinšová | T. Adam