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Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients

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Published in 2019 at "Molecular Genetics and Metabolism Reports"

DOI: 10.1016/j.ymgmr.2019.100498

Abstract: Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit normal IQ, their cognitive… read more here.

Keywords: determining factors; treated pku; cognitive outcome; metabolic control ... See more keywords