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This can be mediated by inadequate cellular fatty acid uptake by the CD36 transporter, defects in acyl-carnitine transport of fatty acid derivatives into mitochondria, and deficiency of fatty -oxidation enzymes, leading to impaired energy metabolism and severe energy deficiency [36]

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Ya que los cidos grasos al llegar al citoplasma, se unen a una molcula de coenzima A (acil-coA), que es impermeable a la membrana mitocondrial

As PCD is a disorder with relatively high prevalence in China and can be fatal if left untreated, we designed a cost-effective variant panel containing 10 high-frequency sites