GM 2 gangliosidosis with hexosaminidase A and B defect: Report of a family with motor neuron disease‐like phenotype
- 1 June 1986
- journal article
- research article
- Published by Springer Nature in Journal of Inherited Metabolic Disease
- Vol. 9 (S2) , 307-310
- https://doi.org/10.1007/bf01799737
Abstract
No abstract availableKeywords
This publication has 6 references indexed in Scilit:
- GM2 Gangliosidosis with a Motor Neuron Disease Phenotype: Clinical Heterogeneity of Hexosaminidase Deficiency DiseasePublished by Springer Nature ,1987
- Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult sandhoff disease) in French CanadiansCanadian Journal of Neurological Sciences, 1984
- Clinical and genetic variations in the syndrome of adult GM2 gangliodosis resulting from hexosaminidase a deficiencyAnnals of Neurology, 1984
- Partial Enzyme Deficiencies: Residual Activities and the Development of Neurological DisordersDevelopmental Neuroscience, 1983
- The clinical spectrum of hexosaminidase deficiency diseasesNeurology, 1981
- Biochemistry and Genetics of gangliosidosesHuman Genetics, 1979