Neurometabolic diseases

Definice dědičných poruch

Specialised literature

1. Management of Pompe disease

2. Phase 2b program with sonlicromanol in patients

3. Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy

4. Multi-year enzyme expression in patients with

5. Phase I study of liver depot gene

6. Lentiviral Gene Therapy for Cerebral

7. Long-Term Effects of Atidarsagene Autotemcel

8. A proposed nosology of inborn errors of metabolism

9. Clinically meaningful improvements after

10. Genotype‑specific effects of elamipretide

11. Long-Term Open-Label Study Evaluating Oral Miglustat Treatment in Patients

12. An international classification of inherited metabolic disorders

13. The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase

14. Therapies for Mitochondrial Disease Past Present and Future

Events and news

Invitation: advanced course on Alzheimer’s disease, Parkinson’s disease and other brain neurodegenerations

Attend an advanced course focused on the latest approaches to the diagnosis, treatment and care of patients with neurodegenerative diseases…

A silent epidemic is spreading through the Czech Republic. By 2035, it could affect one in three people

There is a worldwide increase in the incidence of neurological and especially neurodegenerative diseases. According to experts at the National Institute…

Psychopathology and advanced treatment methods in Parkinson’s disease

On the occasion of the International Parkinson’s Disease Day, the 11th International Parkinson’s Disease Day took place. April 2025 in…