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GM2 gangliosidosis variant B1

โœ Scribed by Salvatore Grosso; Maria Angela Farnetani; Rosario Berardi; Maria Margollicci; Paolo Galluzzi; Rossella Vivarelli; Guido Morgese; Paolo Ballestri


Publisher
Springer
Year
2003
Tongue
English
Weight
354 KB
Volume
250
Category
Article
ISSN
0340-5354

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๐Ÿ“œ SIMILAR VOLUMES


A case of the B1 variant of GM2-ganglios
โœ R. G. F. Gray; A. Green; L. Rabb; D. M. Broadhead; G. T. N. Besley ๐Ÿ“‚ Article ๐Ÿ“… 1990 ๐Ÿ› Springer ๐ŸŒ English โš– 214 KB
GM1-gangliosidosis. A variant with high
โœ Yoshiyuki Suzuki; Taketoshi Hayakawa; Makoto Yazaki; Yoshiki Hiratani ๐Ÿ“‚ Article ๐Ÿ“… 1976 ๐Ÿ› Springer ๐ŸŒ English โš– 619 KB

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