Associated Papers
Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
Blondel A et al.
Molecular Genetics and Metabolism, 2023
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.
Mahdieh N et al.
Clinical Neurology and Neurosurgery, 2018
Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
Gaignard P et al.
Gene, 2013
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