Results 1 -
3
of
3
for
Sandhoff "disease," adult form
- ... first appear: infantile, juvenile, and adult.The infantile form of Sandhoff disease is the most common and severe form and ... organomegaly), or bone abnormalities. Children with the infantile form of Sandhoff disease usually live only into early childhood.The juvenile ...
- ... variants in the HEXB gene cause the severe form of Sandhoff disease, which becomes apparent in infancy. These variants prevent ... genetic changes are responsible for the less severe forms of Sandhoff disease, which appear later in life. More About This ...
- ... Proia RL. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol ...
