This area researches inborn errors of intermediary and energy metabolism, neurometabolic diseases expressed in the central nervous system, neuromuscular diseases, movement disorders with a genetic basis, and neurogenetic diseases.
Research is patient-orientated and based on clinical considerations, diagnoses and treatment, although it also takes into account more fundamental considerations, such as the search for new biochemical and genetic biomarkers and the study of physiopathological mechanisms.
- Phenylketonuria and other genetic defects of intermediary metabolism.
- Mitochondrial energetic metabolism.
- Applied research into neuromuscular diseases.
- Neurometabolic diseases expressed in the central nervous system.
- Movement disorders of genetic and neurometabolic origin.
- Neurogenetics and molecular medicine.