Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations
β Scribed by D Hofer; K Paul; K Fantur; M Beck; A Roubergue; A Vellodi; BJ Poorthuis; H Michelakakis; B Plecko; E Paschke
- Book ID
- 110888992
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 665 KB
- Volume
- 78
- Category
- Article
- ISSN
- 0009-9163
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## Sly GM1-gangliosidosis is a lysosomal storage disease caused by a deficiency of acid b-galactosidase. Three clinical forms are recognized-infantile, juvenile, and adult-based on age of onset and severity of the symptoms. We have performed molecular analysis of a large cohort of GM1 patients (19
GM1-gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration and in its most severe infantile form it leads to death before the age of four. We have performed molecular analysis of five patients with the
## Communicated by Elizabeth Neufeld GM1-gangliosidosis and Morquio B disease are rare lysosomal storage disorders caused by Ξ²-galactosidase deficiency due to mutations in the GLB1 gene. Three major clinical forms of GM1-gangliosidosis have been established on the basis of age of onset and severit