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The reabsorption of L-carnitine in the kidneys is highly efficient, with 9099% of the filtered load being reabsorbed under normal circulating levels [26]
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Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinsons disease
As a consequence, if the screening is done too early in life, plasma carnitine levels can falsely be above the cut-off in an infant with primary carnitine deficiency and drop below the cut-off over time (States mandating 2 screens where the second screening is usually collected between 7 and 21 days of age might better identify infants with primary carnitine deficiency, although no data in this respect have been published)
