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Article

High-resolution loading tests in the study of genetic heterogeneity in gangliosidosis fibroblasts.

Journal of inherited metabolic disease - 1 Jan 1994

Akhunov V S, Mirenburg T V, Krasnopolskaya X D

Abstract excerpt

GM1- and GM2-gangliosides were isolated from brain and radiolabelled. 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...

Topics

Animals
Brain Chemistry
Chromatography, Thin Layer
Diagnosis, Differential
Fibroblasts
G(M1) Ganglioside
G(M2) Ganglioside
Gangliosidoses
Gangliosidosis, GM1
Genetic Variation
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kinetics

Mice

Sandhoff Disease

Tay-Sachs Disease

Source

Identifiers

PMID: 8051915
DOI: 10.1007/BF00735405

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8051915-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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