[The use of loading tests with labeled GM1-ganglioside for differential diagnosis of GM1-gangliosidosis].
1989
: Kinetics of GM1-ganglioside accumulation was studied in fibroblast cultures from patients with various forms of GM1-gangliosidosis using the labelled native substrate GM1-ganglioside isolated from human brain. A shape of accumulation curves in the plot was shown to depend on GM1-ganglioside concentration in a medium in juvenile form of the disease. Use of a number of the fibroblast strains and optimal concentration of GM1-ganglioside 20 micrograms/ml enabled to carry out allele differentiation of the juvenile form of GM1-gangliosidosis from infantile and normal forms, thus suggesting that the loading tests could be applied to pre- and postnatal diagnosis of GM1-gangliosidosis.
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