Phenylalanine Effects on Brain Function in Adult Phenylketonuria.
Andrea PilottoCarl Moritz ZipserEdytha LeksDorothea HaasGwendolyn GramerPeter FreisingerEva SchaefferInga Liepelt-ScarfoneKathrin BrockmannWalter MaetzlerClaudia SchulteChristian DeuschleAnn Kathrin HauserGeorg F HoffmannKlaus SchefflerFrancjan J van SpronsenAlessandro PadovaniFriedrich TrefzDaniela BergPublished in: Neurology (2020)
Our study provides strong evidence for a correlation between phenylalanine levels and clinical, neuropsychological, neurophysiologic, biochemical, and imaging alterations in adult patients with phenylketonuria.