Italian national consensus statement on management and pharmacological treatment of phenylketonuria

BACKGROUND: Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine. PAH impairment causes phenylalanine accumulation in the blood and brain, with a broad spectrum of...

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Detalles Bibliográficos
Autores principales: Burlina, Alberto, Biasucci, Giacomo, Carbone, Maria Teresa, Cazzorla, Chiara, Paci, Sabrina, Pochiero, Francesca, Spada, Marco, Tummolo, Albina, Zuvadelli, Juri, Leuzzi, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Position Statement
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8594187/
https://www.ncbi.nlm.nih.gov/pubmed/34784942
http://dx.doi.org/10.1186/s13023-021-02086-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8594187/
https://www.ncbi.nlm.nih.gov/pubmed/34784942
http://dx.doi.org/10.1186/s13023-021-02086-8

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