The Importance of Early Recognition of Tay-Sachs and Sandhoff Disease

Case Discovery

8 min · 19 jul 2023

Beschrijving

* GM2-gangliosides * beta-hexosaminidase * genetics * epidemiology

Wees de eerste die een reactie plaatst

Meld je nu aan en word lid van de The Importance of Early Recognition of Tay-Sachs and Sandhoff Disease community!

4 afleveringen

Emerging Treatments for TSD and Sd

* blood-brain barrier * substrate reduction therapy * miglustat * venglustat

Mild Juvenile and Adult-Onset Variants

* juvenile GM2-gangliosidosis * late-onset GM2-gangliosidosis * differential diagnosis

Classic Presentation

infantile juvenile late-onset phenotype symptoms

Case Discovery

* GM2-gangliosides * beta-hexosaminidase * genetics * epidemiology