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10.2147/DMSO.S54679 135 Novartis (2012)
The residual activity of the CPT II enzyme is very low in neonatal and infantile forms, resulting in abnormal LCFA profiles, notably with high levels of C16 and C18OH ( Clinical and metabolic features In 1973, DiMauro and DiMauro reported the first case of an adult-onset form of CPT II deficiency ( Carnitine plays a crucial role in the entry of LCFA via carnitine shuttle into the mitochondrial matrix for -oxidation and energy production in the form of adenosine triphosphate
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