Summary
GM1- and GM2-gangliosides were isolated from brain and radio-labelled. The labelled moieties were localized by hydrolysis with lysosomal enzymes, followed by thin-layer chromatography of the products. High-resolution loading tests with labelled gangliosides were developed and found to differentiate infantile and juvenile forms of GM1- and GM2-gangliosidoses as well as the identification of B, O and AB types of GM2-gangliosidosis.
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Akhunov, V.S., Mirenburg, T.V. & Krasnopolskaya, X.D. High-resolution loading tests in the study of genetic heterogeneity in gangliosidosis fibroblasts. J Inherit Metab Dis 17, 104–111 (1994). https://doi.org/10.1007/BF00735405
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DOI: https://doi.org/10.1007/BF00735405