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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)

10.3892/mmr.2018.9713 123 XingL.ZhangH.QiR.TsaoR.MineY
Effects of L-carnitine in patients with autism spectrum disorders: Review of clinical studies

& Pietrzykowski, P
