Title : Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.

Pub. Date : 2018 May

PMID : 29439846






2 Functional Relationships(s)
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1 BACKGROUND: GM1 gangliosidosis is a rare lysosomal storage disorder caused by GLB1 mutations. G(M1) Ganglioside galactosidase beta 1 Homo sapiens
2 METHODS: We confirmed a diagnosis of GM1 gangliosidosis based on GLB1 mutations and/or the deficiency of beta-galactosidase activity. G(M1) Ganglioside galactosidase beta 1 Homo sapiens