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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2020-06-01
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Series: | Molecular Genetics and Metabolism Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426920300173 |