The corpus callosum is the largest white matter structure connecting the two cerebral
hemispheres. Agenesis of the corpus callosum (ACC), complete or partial, is one of the most …

Ataxia is increasingly being recognized as a cardinal manifestation in primary mitochondrial
diseases (PMDs) in both paediatric and adult patients. It can be caused by disruption of …

Perfluorinated alkyl substances (PFAS) are pervasive environmental contaminants that have
attracted considerable attention due to their widespread utilization, resilient characteristics …

Metabolism is crucial for development through supporting cell growth, energy production,
establishing cell identity, developmental signaling and pattern formation. In many model …

Hyperkinetic movement disorders are characterized by the presence of abnormal
involuntary movements, comprising most notably dystonia, chorea, myoclonus, and tremor …

Many diseases affecting the central nervous system (CNS) are deadly but less understood,
leading to impaired mental and motor capabilities and poor patient prospects. Gene therapy …

Neurometabolic diseases are a group of individually rare but numerous and heterogeneous
genetic diseases best known to paediatricians. The more recently reported adult forms may …

The vast clinical and radiological spectrum of pyruvate dehydrogenase complex (PDHc)
deficiency continues to pose challenges both in diagnostics and disease monitoring. Prompt …

In human metabolism, pyruvate dehydrogenase complex (PDC) is one of the most intricate
and large multimeric protein systems representing a central hub for cellular homeostasis …

Congenital microcephaly causes smaller than average head circumference relative to age,
sex and ethnicity and is most usually associated with a variety of neurodevelopmental …