Italian national consensus statement on management and pharmacological treatment of phenylketonuria
Abstract 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 spe...
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| Autores principales: | , , , , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
BMC
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/93b917db1d7147fb934d0c76f2d07494 |
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