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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Detalles Bibliográficos
Autores principales: Beazer, Jennifer, Breck, Jane, Eggerding, Caroline, Gordon, Patricia, Hacker, Stephanie, Thompson, Amie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7044524/
https://www.ncbi.nlm.nih.gov/pubmed/32140415
http://dx.doi.org/10.1016/j.ymgmr.2020.100571

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