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 ?
Brammer Bio will produce LYS-GM101, an AAVrh10-based gene therapy, for clinical testing of the therapeutic candidate in patients with GM1 Gangliosidosis, a rare neuronopathic lysosomal storage disorder.
Since 2009, Lysogene has established a solid platform and network, with lead products in Mucopolysaccharidosis type IIIA and GM1 Gangliosidosis, to become a global leader in orphan CNS diseases.
Potent GCS inhibitors reduce glucosylceramide (GlcCer), the substrate of GBA and the storage material in Gaucher, and also higher glycosphingolipids including gangliosides and globosides, the causative storage materials in Tay-Sachs disease, GM1 gangliosidosis and Fabry disease.
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.
All three children were diagnosed last August with a rare genetic disorder, GM1 gangliosidosis.
Three families, two from Wisconsin and one from California, were given the devastating news that their children would die by the age of 3 from infantile GM1 gangliosidosis, an extremely rare metabolic degenerative disease with no cure.
Tifft provided information about gangliosidoses (GANG-lee-oh-sih-DOE-sees), including GM1 gangliosidosis, the diagnosis of the Hall children.
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.
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).