𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

✍ 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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Six novel Ξ²-galactosidase gene mutations
✍ ClΓ‘udia M.D. Silva; MΓ‘rcia H. Severini; AndrΓ©ia Sopelsa; Janice C. Coelho; Arnal πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 303 KB πŸ‘ 1 views

## 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

Four novel mutations in patients from th
✍ T. Georgiou; A. Drousiotou; Y. Campos; A. Caciotti; L. Sztriha; A. Gururaj; P. O πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 253 KB

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

Twenty-one novel mutations in the GLB1 g
✍ RaΓΌl Santamaria; Amparo ChabΓ‘s; Maria Josep Coll; Clara Sa Miranda; LluΓ―sa Vilag πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 174 KB πŸ‘ 1 views

## 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