Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations

Background: Phenylketonuria (PKU) is a rare autosomal recessive disorder caused by mutations in the gene encoding phenylalanine hydroxylase, an enzyme that converts phenylalanine to tyrosine. Untreated, PKU is characterized by a range of neuropsychological and neurocognitive impairments. Due to ubiq...

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Bibliographic Details
Main Authors: Jennifer Beazer, Jane Breck, Caroline Eggerding, Patricia Gordon, Stephanie Hacker, Amie Thompson
Format: Article
Language:English
Published: Elsevier 2020-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920300173