Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria

Phenylketonuria (PKU), an autosomal recessive inherited metabolic disorder, is caused by a mutation in the phenylalanine hydroxylase (PAH) gene on the 12th chromosome. Defective PAH activity ultimately leads to increased phenylalanine (Phe) blood concentrations (hyperphenylalaninemia) that harm the...

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Detalles Bibliográficos
Autores principales: Keskin, Fatma Nur, Şahin, Teslime Özge, Capasso, Raffaele, Ağagündüz, Duygu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Pediatric Society 2022
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10397997/
https://www.ncbi.nlm.nih.gov/pubmed/36397260
http://dx.doi.org/10.3345/cep.2022.00584

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10397997/
https://www.ncbi.nlm.nih.gov/pubmed/36397260
http://dx.doi.org/10.3345/cep.2022.00584

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