Vacuolated lymphocytes and abnormal eosinophils in GM1 gangliosidosis, type 1
β Scribed by Charles Chevalier; Gautier Detry
- Book ID
- 108677492
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 133 KB
- Volume
- 156
- Category
- Article
- ISSN
- 0007-1048
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## Abstract GM1 gangliosidosis is due to Ξ²βgalactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in nonβJapanese patients. We describe four new patients and systematically analyze
Uptake of radioactivity from 14C-galactose into gangliosides by cultured skin fibroblasts was studied. GM3 was the major ganglioside in control human fibroblasts. An increase of GM1 was demonstrated in GM1-gangliosidosis fibroblasts. The degree of GM1 accumulation was correlated with the clinical ty