Genetic Storage Disorders

Pompe disease - From infantile-onset to late-onset forms

Pompe disease is a rare genetic disorder that causes progressive muscle weakness. Learn about its causes, key symptoms, diagnosis, and available treatments.

M.marix

3 months ago

Fabry disease - A rare X-linked lysosomal storage disorder

Fabry disease is a rare genetic disorder. Learn about its causes, key symptoms, diagnosis, and modern treatments like enzyme replacement therapy to improve life expectancy.

M.marix

3 months ago

Gaucher disease - An inherited lysosomal storage disorder

Gaucher disease is a rare genetic disorder with various symptoms. Learn about its causes, the different types, and effective treatments like enzyme replacement therapy.

M.marix

3 months ago

Tag: Genetic Storage Disorders

Pompe disease - From infantile-onset to late-onset forms

Fabry disease - A rare X-linked lysosomal storage disorder

Gaucher disease - An inherited lysosomal storage disorder