Lipids and phenylketonuria: current evidences pointed the need for lipidomics studies

Phenylketonuria (PKU) is the most prevalent inborn error of amino acid metabolism. The disease is due to the deficiency of phenylalanine (Phe) hydroxylase activity, which causes the accumulation of Phe. Early diagnosis through neonatal screening is essential for early treatment implementation, avoid...

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Detalhes bibliográficos
Autor principal: Guerra, Inês M. S. (author)
Outros Autores: Ferreira, Helena B. (author), Neves, Bruna (author), Melo, Tânia (author), Diogo, Luísa M. (author), Domingues, M. Rosário (author), Moreira, Ana S. P. (author)
Formato: article
Idioma:eng
Publicado em: 2021
Assuntos:
Inborn errors of metabolism
Phenylketonuria
Lipid changes
Oxidative stress
Lipidomics
Mass spectrometry
Texto completo:http://hdl.handle.net/10773/28697
País:Portugal
Oai:oai:ria.ua.pt:10773/28697

Texto Completo

http://hdl.handle.net/10773/28697

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