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

• Main Authors: Ekaterina A. Nikolaeva (Author), Svetlana Ya. Volgina (Author), Chulpan D. Khaliullina (Author), Sergey V. Bochenkov (Author), Maria A. Danceva (Author)
• Format: Bog
• Udgivet: "Paediatrician" Publishers LLC, 2021-03-01T00:00:00Z.
• Fag: article
• Online adgang: Connect to this object online.

Background. Defects in pyruvate dehydrogenase complex (PDC), involved in the glycolysis products integration into the cells' energy metabolism, are one of the reasons of mitochondrial pathology development. The diagnosis of this condition can be pretty complicated also due to the lack of descri...