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Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1728
Abstract: Pyruvate dehydrogenase complex (PDHC) deficiency is a common neurodegenerative disease associated with abnormal mitochondrial energy metabolism. The diagnosis of PDHC is difficult because of the lack of a rapid, accurate, and cost‐effective clinical diagnostic method.
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Keywords:
disease detected;
dehydrogenase deficiency;
deficiency;
deficiency disease ... See more keywords