VOPROSY MEDITSINSKOI KHIMII (ISSN 0042-8809)

The use of loading tests with labeled GM1-ganglioside for differential diagnosis of GM1-gangliosidosis

   
Akhunov V.S., Krasnopol'skaia K.D., Mirenburg T.V.
PubMed Id: 2515652
Year: 1989  Volume: 35  Issue: 5  Pages: 119-122
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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Citation:

Akhunov, V. S., Krasnopol'skaia, K. D., Mirenburg, T. V. (1989). The use of loading tests with labeled GM1-ganglioside for differential diagnosis of GM1-gangliosidosis. Voprosy Meditsinskoi Khimii, 35(5), 119-122.
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