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Tafuri A, De Felice L, Petrucci MT, Mascolo MG, Valentini T, Fenu S, Petti MC, Andreeff M , Mandelli F

doi:10.1038/nrendo.2012.140 55

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Assessment of the presenting signs and symptoms is important Blood and urine tests, as necessary Radiological imaging studies of the affected parts of the body Prenatal imaging studies If carnitine levels in blood are extremely low after molecular genetic testing is performed, a healthcare provider may suspect Carnitine Deficiency Syndrome