Saccadic reaction time and ocular findings in phenylketonuria

Saccadic reaction time and ocular findings in phenylketonuria

Abstract 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....

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Bibliographic Details
Main Authors: Susanne Hopf, Caroline Nowak, Julia B. Hennermann, Irene Schmidtmann, Norbert Pfeiffer, Susanne Pitz
Format: Article
Language:English
Published: BMC 2020-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Saccadometry
Video-oculography
Saccades
Phenylketonuria
Hyperphenylalaninemia
Phenylalanine hydroxylase deficiency
Online Access:http://link.springer.com/article/10.1186/s13023-020-01407-7

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http://link.springer.com/article/10.1186/s13023-020-01407-7

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