β -D-galactosidase activities in juvenile GM1-gangliosidosis
✍ Scribed by Bjourn Hultberg; Sture Sjoublad
- Book ID
- 114780754
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 445 KB
- Volume
- 58
- Category
- Article
- ISSN
- 0001-6314
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📜 SIMILAR VOLUMES
A case of GMl-gangliosidosis with high activity of hepatic neutral fi-galactosidase is reported. Gl~ii-fi-galactosidase was deficient. Ganglioside G5I 1 was accumulated in the liver of this patient. Clinically this Japanese girl started convulsive seizures at 5 months of age, had hepatomegaly, and m
## 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