Anoosh Naghavi

A novel homozygous GLB1 pathogenic variant identified in two cases of infantile GM1 gangliosidosis

GM1 gangliosidosis is a rare genetic disorder that affects lysosomes. It is caused by variants in the GLB1 gene, which leads to a lack of the enzyme β-galactosidase. The infantile form (Type I) is the most severe. It begins in the first months of life and has a poor prognosis. We...