volume 122, issue 3, P177-186 1976
DOI: 10.1007/bf00463735
View full text
|
|
Share

Abstract: 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.

Search citation statements

Order By: Relevance

Paper Sections

0
0
0
0
0

Citation Types

0
4
0

Publication Types

Select...

Relationship

0
0

Authors

Journals