Open access
Aug 2026
Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden. Methods Forty‐two individuals with genetically confirmed PDCD (86...
A. Savvidou, Colin Reilly, K. Sofou et al.
· Annals of Clinical and Trans... · 0 citations