Abstract
A neonate subsequently diagnosed with carnitine palmitoyl-transferase I deficiency died at 34 h of untreatable bradycardia. There was fatty infiltration of the liver and increased free carnitine and reduced acylcarnitines in the blood.
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Invernizzi, F., Burlina, A.B., Donadio, A. et al. Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency. J Inherit Metab Dis 24, 601–602 (2001). https://doi.org/10.1023/A:1012476029536
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DOI: https://doi.org/10.1023/A:1012476029536