2022•Molecular Genetics and MetabolismOpen access

Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis

Amélie Blondel, Ichraf Kraoua, Chloé Marcelino, Walid Khrouf, Dimitri Schlemmer, Benjamin Ganne, Catherine Caillaud, Gorka Fernández‐Eulate, Ilhem Turki, Benjamin Dauriat, Dominique Bonnefont‐Rousselot, Yann Nadjar, Foudil Lamari

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Key concepts: Gangliosidosis, Sandhoff disease, Hexosaminidase, Tay-Sachs disease, Lysosomal storage disease, Ganglioside, HEXA, Lysosome