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Recent Advances in Phenylketonuria: A Review

This article highlights the significance of inborn errors of metabolism and focuses specifically on phenylketonuria (PKU), a well-known inheritance disorder caused by the deficiency or absence of phenylalanine hydroxylase (PAH). This review discusses associated mutations in the PAH gene and their im...

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Detalles Bibliográficos
Autor principal:	Zuñiga Vinueza, Andrea M
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2023
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10349532/ https://www.ncbi.nlm.nih.gov/pubmed/37456395 http://dx.doi.org/10.7759/cureus.40459

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