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Missense mutations retaining residual carnitine transport activity are identified with increased frequency in these mothers, who still remain at risk of sudden death from cardiac arrhythmia

99 , 5766 (2015) W

Previous studies 39,40 have shown that the substrates of HA and PAGL/PAG formation compete with each other, and consequently result in decreased production of these compounds

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Carnitine also serves a critical buffering function by accepting excess acyl groups that accumulate during periods of high metabolic flux (intense exercise, fasting)