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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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GM1-gangliosidosis. A variant with high
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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

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✍ Cláudia M.D. Silva; Márcia H. Severini; Andréia Sopelsa; Janice C. Coelho; Arnal 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 303 KB 👁 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