Articles tagged with GM2-gangliosidosis type II
Sandhoff disease is a rare inherited lysosomal storage disorder caused by an accumulation of the specific glycosphinogolipid, GM2 ganglioside1, particularly in neurons. This accumulation results in a progressive neurodegenerative disorder clinically indistinguishable from Tay-Sachs disease. Because…
GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. GM1 gangliosidosis, also known as GLB1 deficiency, is estimated to occur in…
The goal of this study is to validate this new biochemical marker from the plasma of affected patients helping to benefit other patients by an early diagnosis and thereby with earlier treatment.