GM1 gangliosidosis

GM1 gan·gli·o·si·do·sis

three forms exist: infantile, generalized; juvenile; and adult; gangliosidosis characterized by accumulation of a specific monosialoganglioside, GM1; due to deficiency of GM1-β-galactosidase.

GM1 gangliosidosis

References in periodicals archive ?
When the Halls received the diagnosis of GM1 gangliosidosis, they felt, "not really shocked," David said.
When asked whether they have contact with other families who have a member with a GM1 gangliosidosis diagnosis, David indicated that Dr.
Tifft provided information about gangliosidoses (GANG-lee-oh-sih-DOE-sees), including GM1 gangliosidosis, the diagnosis of the Hall children.
They are working pretty much simultaneously on gene therapy for GM1 gangliosidosis and for GM2.
Retrospective diagnosis of GM1 gangliosidosis by use of a newborn-screening card.
The GM1 gangliosidosis and Sandhoff carriers studied in this experiment showed intermediate degrees of enzyme activity.
To verify the stability of these enzymes under usual mailing conditions, DBFP samples from four controls, two GM1 gangliosidosis patients, two gangliosidosis carriers, two Maroteaux-Lamy patients, two Maroteaux-Lamy carriers, two Hunter patients, and two Hunter carriers were sent by air mail to the following locations: Sao Paulo, Brazil; Toronto, Canada; Brussels, Belgium; and Christchurch, New Zealand.
23) is the primary defect in the three clinical forms (infantile, juvenile, and adult) of GM1 gangliosidosis and in Morquio B syndrome.
In cases of galacto-sialidosis and GM1 gangliosidosis, the oligosaccharides had been characterized and quantified previously (6, 13).
The representative profile of permethylated FOS from patients with GM1 gangliosidosis (n = 10) had a mass spectrum with major ions at m/z, 1171.
Neuroimaging findings in late infantile GM1 gangliosidosis.