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To advance the field, there is an urgent need to establish clearer biomarker reference ranges, implement consistent diagnostic criteria, and develop antioxidant treatment protocols grounded in robust clinical evidence

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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

Arch Neurol

Apply lotion or moisturizer after bathing