Saccadic reaction time and ocular findings in phenylketonuria

Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocula...

Source: Orphanet Journal of Rare Diseases - May 25, 2020 Category: Internal Medicine Authors: Susanne Hopf, Caroline Nowak, Julia B. Hennermann, Irene Schmidtmann, Norbert Pfeiffer and Susanne Pitz Tags: Research Source Type: research