European Journal of Pediatrics 1976-Jun
Gmi-gangliosidosis. A variant with high activity of hepatic neutral beta-galactosidase.
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Klíčová slova
Abstraktní
A case of GM1-gangliosidosis with high activity of hepatic neutral beta-galactosidase is reported. GM1-beta-galactosidase was deficient. Ganglioside GM1 was accumulated in the liver of this patient. Clinically this Japanese girl started convulsive seizures at 5 months of age, had hepatomegaly, and macular cherry-red spots, but lacked gargoylelike clinical characteristics. Correlation of clinical and biochemical data is discussed.