We report a female premature infant with bronchopulmonary dysplasia and Sandhoff
disease. The clue for diagnosis was the fundoscopy examination. We discuss this rare …

Sandhoff disease is a rare autosomal recessive metabolic disorder of GM 2 gangliosides.
Recently, a 10-month-old female child of nonconsanguineous marriage presented with …

Sandhoff disease is a severe form of GM2 gangliosidosis that is caused by the deficiency of
both hexosaminidase A and B. Startle reaction, hypotonia, psychomotor retardation, and …

andhoff disease (GM2 gangliosidosis) is much less common than Tay-Sachs disease. Both
are autosomal recessive lysosomal storage disorders (GM gangliosidoses). But Sandhoff …

Background Sandhoff disease is an autosomal recessive disorder caused by β-
hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate …

Sandhoff disease is a GM2 gangliosidosis that is rare in Thailand. The authors report a Thai
family with two children known to have infantile form of Sandhoff disease. The index case …

Sandhoff disease, also known as GM 2-gangliosidoses variant 0, is caused by the deficient
activity of both hexosaminidase A and hexosaminidase B. We report a 15-month-old boy …

A case of Sandhoff's disease (GM2 gangliosidosis type 2) is reported because of an unusual
course with later onset of symptoms, more slow progress and longer survival than those …

Sandhoff disease is a rare and severe lysosomal storage disorder representing 7% of GM2
gangliosidoses. Bilateral thalamic involvement has been suggested as a diagnostic marker …

Sandhoff's disease is a rare autosomal-recessive disorder of sphingolipid metabolism that
results from a deficiency of lysosomal enzyme β-hexosaminidase A and B. The resultant …