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A case of the B1 variant of GM2-gangliosidosis

โœ Scribed by R. G. F. Gray; A. Green; L. Rabb; D. M. Broadhead; G. T. N. Besley


Publisher
Springer
Year
1990
Tongue
English
Weight
214 KB
Volume
13
Category
Article
ISSN
0141-8955

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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