Classic Presentation

16 min · 24. heinä 2023

Kuvaus

infantile juvenile late-onset phenotype symptoms

Ole ensimmäinen kommentoija

Rekisteröidy nyt ja liity The Importance of Early Recognition of Tay-Sachs and Sandhoff Disease-yhteisöön!

4 jaksot

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