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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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Symptoms of high B12 levels in blood are uncommon and usually relate to underlying conditions rather than the vitamin itself

Antioxidants such as N-acetylcystein, vitamin C, vitamin E, astaxanthin, and zinc have shown promising results in both preclinical and clinical studies

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