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Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103818
Abstract: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder characterized by an inability to metabolize the amino acid phenylalanine (Phe). If left untreated, an accumulation of Phe results in neurodevelopmental, neurological and psychological impairments. Advancements in…
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Keywords:
patient perspectives;
adult patient;
adult;
adult pku ... See more keywords