Articles with "disease detected" as a keyword



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Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes

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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. read more here.

Keywords: disease detected; dehydrogenase deficiency; deficiency; deficiency disease ... See more keywords