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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| 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 |