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

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‐year‐o...

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Detalles Bibliográficos
Autores principales: Ma, YanYan, Zhang, YaoGang, Zhang, Tao, Man, Zhu, Su, XiaoMing, Hao, ShuJing, Wang, TianZe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404224/
https://www.ncbi.nlm.nih.gov/pubmed/34156167
http://dx.doi.org/10.1002/mgg3.1728