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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2023
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Materias: | |
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 |