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The reported patient A had two homozygous variants: one pathogenic CPT II gene, confirming CPT II deficiency and a likely pathogenic variant in SLC22A5 gene indicating primary carnitine deficiency (Table 1)
En forma libre, est lista para ser absorbida por el cuerpo sin necesidad de ser descompuesta por las enzimas digestivas
Effects of L-carnitine in patients with autism spectrum disorders: Review of clinical studies
