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Lcarnitine kan in de mitochondrin met behulp van enzymen worden omgezet in acetylLcarnitine via koppeling aan een acetylgroep

In addition to a factor analysis, assessments of responsiveness

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The diagnosis of CUD may preliminary be made with results of serum free carnitine, acylcarnitine profile, and urine metabolic screening while the definitive diagnosis is made after DNA mutation analysis