The lysosomal storage disorder, GM1 gangliosidosis (GM1), is a neurodegenerative
condition resulting from deficiency of the enzyme β-galactosidase (β-gal). Mutation of the …

Introduction Type 1 GM1 gangliosidosis is an ultra-rare, rapidly fatal lysosomal storage
disorder, with life expectancy of< 3 years of age. To date, only one prospective natural …

Autosomal recessive mutations in the galactosidase β1 (GLB1) gene cause lysosomal β-gal
deficiency, resulting in accumulation of galactose-containing substrates and onset of the …

Objective To evaluate the clinical presentation of patients with GM1 gangliosidosis and to
determine whether specific clinical or biochemical signs could lead to a prompt diagnosis …

One of the most important inherited metabolic disorders is GM1 gangliosidosis, which is a
progressive neurological disorder. The main cause of this disease is a genetic defect in the …

Background GM1 gangliosidosis is a rare lysosomal storage disorder caused by GLB1
mutations. Because of its extreme rarity and symptoms that overlap with other …

We describe 12 subjects of ten unrelated families from the region of Campinas and the
southern state of Minas Gerais, Brazil, who presented with juvenile (n= 4) and adult (n= 8) …

GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in the GLB1 gene,
leading to the deficiency of the enzyme β-d-galactosidase. In this study, we report molecular …

GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by the
deficiency of β-galactosidase activity, precisely due to mutations in the GLB1 gene. To …

GM1 gangliosidosis is a lysosomal storage disorder caused by β‐galactosidase deficiency.
To date, prospective studies for GM1 gangliosidosis are not available, and only a few have …