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

Abstract Background 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. Methods A 4...

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Váldodahkkit: YanYan Ma, YaoGang Zhang, Tao Zhang, Zhu Man, XiaoMing Su, ShuJing Hao, TianZe Wang
Materiálatiipa: Artigo
Giella:Inglês
Almmustuhtton: Wiley 2021-08-01
Ráidu:Molecular Genetics & Genomic Medicine
Fáttát:
Liŋkkat:https://doi.org/10.1002/mgg3.1728
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