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Results 1 - 10 of 133 > >>
EC Number Disease PubMed ID Title of Publication Category Confidence Level
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.92(n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency 10731680 Essential roles of carbohydrate signals in development, immune response and tissue functions, as revealed by gene targeting. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.92(n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency 17050284 Etiology of vision loss in ganglioside GM3 synthase deficiency. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.92(n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency 22990144 Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. causal interaction
therapeutic application
unassigned
4
1
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.92(n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency 23436467 Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.92(n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency 25652401 Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.92(n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency 26649472 Early growth and development impairment in patients with ganglioside GM3 synthase deficiency. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.92(n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency 27232954 GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype. causal interaction
diagnostic usage
unassigned
3
3
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.92(n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency 27251946 Quantification of monosialogangliosides in human plasma through chemical derivatization for signal enhancement in LC-ESI-MS. causal interaction
diagnostic usage
unassigned
2
4
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.92(n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency 30185102 ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.92(n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency 30209782 Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency. causal interaction
ongoing research
unassigned
4
2
0
Results 1 - 10 of 133 > >>