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Saccadic reaction time and ocular findings in phenylketonuria

BACKGROUND: Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocular changes, the disorder has been poorly recognized by ophthalmologists. Neuroph...

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Detalles Bibliográficos
Autores principales: Hopf, Susanne, Nowak, Caroline, Hennermann, Julia B., Schmidtmann, Irene, Pfeiffer, Norbert, Pitz, Susanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249436/
https://www.ncbi.nlm.nih.gov/pubmed/32450880
http://dx.doi.org/10.1186/s13023-020-01407-7