" /> pyruvate dehydrogenase E3-Binding protein deficiency - CISMeF





Preferred Label : pyruvate dehydrogenase E3-Binding protein deficiency;

MeSH note : mutation in PDHX;

MeSH synonym : lactic acidemia due to defect in Lipoyl-Containing component X of the pyruvate dehydrogenase complex;

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03/05/2025


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