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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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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 |