Associated Papers
Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.
Tavasoli AR et al.
Orphanet Journal of Rare Diseases, 2018
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
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