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311 , H54H63 (2016)
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O.RiveraE
These ketones are derived from acetyl-CoA from fatty acid oxidation and in carnitine deficiency, this is defective.[6] Unstable energy and metabolic abnormalities can impair brain function with loss of consciousness and metabolic encephalopathy.[6][17] History and Physical The presentation of Primary carnitine deficiency is variable between patients in terms of severity.[3] The clinical manifestations and severity of symptoms of PCD can vary based on the age of onset and the involved organ systems
Pitocco D, et al
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