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Clinical, genetic, and experimental research of hyperphenylalaninemia

Hyperphenylalaninemia (HPA) is the most common amino acid metabolism defect in humans. It is an autosomal-recessive disorder of the phenylalanine (Phe) metabolism, in which high Phe concentrations and low tyrosine (Tyr) concentrations in the blood cause phenylketonuria (PKU), brain dysfunction, ligh...

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Detalles Bibliográficos
Autores principales: Chen, Anqi, Pan, Yukun, Chen, Jinzhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845280/
https://www.ncbi.nlm.nih.gov/pubmed/36685931
http://dx.doi.org/10.3389/fgene.2022.1051153