Associated Papers
Atypical presentation of late-onset Sandhoff disease: a case report.
Salamon A et al.
Ideggyogyaszati Szemle, 2021
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
A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.
Lee EH et al.
Human Mutation, 2000
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