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Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects Genetics in Medicine Clinical characteristics of primary carnitine deficiency: A structured review using a casebycase approach Crefcoeur 2022 Journal of Inherited Metabolic Disease Wiley Online Library L Carnitine is Underrated. New Meta Review Reminds Us Why. Carnitine: Genetic Variants Affecting Mitochondrial Energy and Health
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