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These disorders are characterized by massive accumulation of autofluorescent lysosomal storage bodies in most cells of the CNS and associated severe degeneration of the CNS [115]

Moreover, these results indicate that the heart could determine changes in plasma medium- and long-chain AC concentrations during the transition from fasted to fed state

434 Patients with PDPN have increased epineurial blood flow and intravascular oxygen saturation, perhaps secondary to arteriovenous shunting due to sympathetic denervation

Patients with primary deficiency excrete (free) carnitine through the urine due to impaired renal absorption (Cederbaum et al., 2002, Spiekerkoetter et al., 2003)