Rare neuromuscular and neurogenetic diseases (diagnosis)
This course is designed for patients being monitored for a …
What you'll learn
Inborn errors of metabolism in children: when and why to think about them?
Gaucher disease, Mucopolysaccharidosis type I (MPS I)
Acid sphingomyelinase deficiency (ASMD)
Pompe's disease
Fabry disease
Familial amyloidosis
Cardiac amyloidosis
Spinal muscular atrophy
Non-dystrophic myotonia
Autoimmune myasthenia



