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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,… Click to show full 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.
Keywords:
disease detected;
dehydrogenase deficiency;
deficiency;
deficiency disease;
pyruvate dehydrogenase
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!