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A total of 60 ultrasound examinations were taken, with 30 collected before treatment and 30 after treatment

- Liposome: A small sphere with a double-layer lipid structure designed to safely transport substances from outside to inside the body

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We report on the performance of whole-exome sequencing in members of a consanguineous family with a history of pediatric hypertrophic cardiomyopathy and sudden cardiac death, which led to the identification of a homozygous stop variant in the SLC22A5 gene, implicated in primary carnitine deficiency, as the likely genetic cause

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