GM1-gangliosidosis. A variant with high activity of hepatic neutral ?-galactosidase
- 1 January 1976
- journal article
- conference paper
- Published by Springer Nature in European Journal of Nuclear Medicine and Molecular Imaging
- Vol. 122 (3), 177-186
- https://doi.org/10.1007/bf00463735
Abstract
A case of GM1-gangliosidosis with high activity of hepatic neutral β-galactosidase is reported. GM1-β-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.Keywords
This publication has 23 references indexed in Scilit:
- Enzymatic study of GM1 gangliosidosisClinica Chimica Acta; International Journal of Clinical Chemistry, 1975
- Brain β-Galactosidase and Gm1 GangliosidosisPediatric Research, 1974
- Differential effect of chloride ions on β-galactosidase isoenzymes: A method for separate assayClinica Chimica Acta; International Journal of Clinical Chemistry, 1971
- G M2 ‐gangliosidosis with total hexosaminidase deficiencyNeurology, 1971
- GM1-gangliosidosis Types 1 and 2: Enzymatic Differences in Cultured FibroblastsNature, 1970
- FIVE GANGLIOSIDOSESThe Lancet, 1969
- A colorimetric method for estimating serum triglyceridesClinica Chimica Acta; International Journal of Clinical Chemistry, 1968
- Generalized Gangliosidosis: Beta-Galactosidase DeficiencyScience, 1968
- Late infantile systemic lipidosis Major monosialogangliosidosis Delineation of two typesNeurology, 1968
- Generalized GangliosidosisAmerican Journal of Diseases of Children, 1965