Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo (1)H-NMR Analysis

Phenylketonuria (PKU) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase gene. Depending on the severity of the genetic mutation, medical treatment, and patient dietary management, elevated phenylalanine (Phe) may occur in blood and brain tissues. Research has recently...

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Detalles Bibliográficos
Autores principales: Cannet, Claire, Bayat, Allan, Frauendienst-Egger, Georg, Freisinger, Peter, Spraul, Manfred, Himmelreich, Nastassja, Kockaya, Musa, Ahring, Kirsten, Godejohann, Markus, MacDonald, Anita, Trefz, Friedrich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10343293/
https://www.ncbi.nlm.nih.gov/pubmed/37446577
http://dx.doi.org/10.3390/molecules28134916

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