Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion

OBJECTIVE: Phenylketonuria (PKU) is a rare inherited metabolic disorder characterised by elevated phenylalanine (Phe) concentrations that can exert neurotoxic effects if untreated or upon treatment discontinuation. This systematic review supported by expert opinion aims to raise awareness among the...

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Detalles Bibliográficos
Autores principales: Merkel, Martin, Berg, Daniela, Brüggemann, Norbert, Classen, Joseph, Mainka, Tina, Zittel, Simone, Muntau, Ania C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10345006/
https://www.ncbi.nlm.nih.gov/pubmed/37081197
http://dx.doi.org/10.1007/s00415-023-11703-4

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