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Targeted carnitine tandem mass spectrometry analysis in the patient revealed complete absence of plasma-free carnitine and only trace levels of total carnitine, further supporting the causality of the SLC22A5 variant

Materials and Methods Study subjects This 9-month study included 4 study groups: 1) the TRX2 supplement group, 2) the TRX2 lotion group, 3) the TRX2 supplement and lotion group, and 4) the no-treatment control group

CPT1B is predominant in the skeletal muscle, adipose tissue, heart, and testis (Esser et al., 1996), whereas CPT1C is mainly expressed in the brain and is downregulated in the testis, ovaries, small intestine, and colon (Price et al., 2002)

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