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Health-related quality of life in a european sample of adults with early-treated classical PKU

BACKGROUND: Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepant. Moreover, little is known about metabolic, demographic...

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Detalles Bibliográficos
Autores principales: Maissen-Abgottspon, Stephanie, Muri, Raphaela, Hochuli, Michel, Reismann, Péter, Barta, András Gellért, Alptekin, Ismail Mucahit, Hermida-Ameijeiras, Álvaro, Burlina, Alessandro P., Burlina, Alberto B., Cazzorla, Chiara, Carretta, Jessica, Trepp, Roman, Everts, Regula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10517574/
https://www.ncbi.nlm.nih.gov/pubmed/37740225
http://dx.doi.org/10.1186/s13023-023-02917-w