Objective Late‐onset GM2 gangliosidosis (LOGG) subtypes late‐onset Tay‐Sachs (LOTS)
and Sandhoff disease (LOSD) are ultra‐rare neurodegenerative lysosomal storage …

Lysosomal storage disorders (LSDs) in adults have milder phenotype and variable age at
presentation. Several studies have described the phenotype, genotype and treatment …

Defects in the HEXB gene which encodes the β-subunit of β-hexosaminidase A and B
enzymes, cause a GM2 gangliosidosis, also known as Sandhoff disease, which is a rare …

Sandhoff disease is an infrequent, genetically caused disorder with a recessive autosomal
inheritance pattern. It belongs to the gangliosidosis GM2 group and is produced by …

Sandhoff disease is a rare fatal infantile neurologic disorder. Adult onset Sandhoff is even
rarer. Variability of clinical features in adult onset Sandhoff patients and overlaps between …