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

Classic Presentation

16 min · 24. juli 2023

Beskrivelse

infantile juvenile late-onset phenotype symptoms

Vær den første til at kommentere

Tilmeld dig nu og bliv en del af The Importance of Early Recognition of Tay-Sachs and Sandhoff Disease-fællesskabet!

4 episoder

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