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Genetic etiology and clinical challenges of phenylketonuria

This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism caused by pathogenic variants in the phenylalanine hydroxylase (PAH) gene. The prevalence of P...

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Detalles Bibliográficos
Autores principales:	Elhawary, Nasser A., AlJahdali, Imad A., Abumansour, Iman S., Elhawary, Ezzeldin N., Gaboon, Nagwa, Dandini, Mohammed, Madkhali, Abdulelah, Alosaimi, Wafaa, Alzahrani, Abdulmajeed, Aljohani, Fawzia, Melibary, Ehab M., Kensara, Osama A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295449/ https://www.ncbi.nlm.nih.gov/pubmed/35854334 http://dx.doi.org/10.1186/s40246-022-00398-9

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