Add to ORKGA case of GM2 gangliosidosis is reported: the diagnosis has been made by clinical findings showing macular cherry-red spot and a progressive neurologic symptomatology with epilepsy, by electron microscopic observation in conjunctival fibroblasts of numerous vacuoles ("zebra bodies") and by absence of total hexosaminidase activity in leukocytes. An abnormal increase of urinary oligosaccharides has also been found
GM2 gangliosidosis type Sandhoff is caused by a defect of beta-hexosaminidase, an enzyme involved in...
To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM...
To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM...
A case of GM2 gangliosidosis is reported: the diagnosis has been made by clinical findings showing m...
Sandhoff disease is a severe form of GM, gangliosidosis that is caused by the deficiency of both hex...
This study reports the occurrence of the lysosomal storage disease GM2 gangliosidosis (Sandhoff dise...
In 13 patients, the GM2 gangliosidoses, Sandhoff disease and Tay-Sachs disease, were found to be con...
GMl-gangliosidosis is an inherited disease quite distinct from Tay-Sachs and Hurler's diseases. It e...
Sandhoff disease is a devastating autosomal recessive GM2 gangliosidosis in which a deficiency of β-...
Background. GM2-gangliosidosis, type I (Tay-Sachs disease) is rare hereditary disease caused by muta...
SUMMARY Skin punch biopsies of six children suffering from infantile or late onset Tay-Sachs disease...
Variant B1 is a rare type of GM2 gangliosidosis. Clinically, it shows a wide spectrum of forms rangi...
Abstract Background Infantile Sandhoff disease (ISD) is a GM2 gangliosidosis that is classified as a...
Abstract. In the present study, laboratory techniques were used to diagnose canine GM2-gangliosidosi...
WOS: 000436882600004Aim: The purpose of our study is to submit the demographic, phenotypic and age a...
GM2 gangliosidosis type Sandhoff is caused by a defect of beta-hexosaminidase, an enzyme involved in...
To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM...
To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM...
A case of GM2 gangliosidosis is reported: the diagnosis has been made by clinical findings showing m...
Sandhoff disease is a severe form of GM, gangliosidosis that is caused by the deficiency of both hex...
This study reports the occurrence of the lysosomal storage disease GM2 gangliosidosis (Sandhoff dise...
In 13 patients, the GM2 gangliosidoses, Sandhoff disease and Tay-Sachs disease, were found to be con...
GMl-gangliosidosis is an inherited disease quite distinct from Tay-Sachs and Hurler's diseases. It e...
Sandhoff disease is a devastating autosomal recessive GM2 gangliosidosis in which a deficiency of β-...
Background. GM2-gangliosidosis, type I (Tay-Sachs disease) is rare hereditary disease caused by muta...
SUMMARY Skin punch biopsies of six children suffering from infantile or late onset Tay-Sachs disease...
Variant B1 is a rare type of GM2 gangliosidosis. Clinically, it shows a wide spectrum of forms rangi...
Abstract Background Infantile Sandhoff disease (ISD) is a GM2 gangliosidosis that is classified as a...
Abstract. In the present study, laboratory techniques were used to diagnose canine GM2-gangliosidosi...
WOS: 000436882600004Aim: The purpose of our study is to submit the demographic, phenotypic and age a...
GM2 gangliosidosis type Sandhoff is caused by a defect of beta-hexosaminidase, an enzyme involved in...
To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM...
To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM...