Associated Papers
Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India.
Gowda VK et al.
Journal of Pediatric Genetics, 2022
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
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
Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.
Fitterer B et al.
Molecular Genetics and Metabolism, 2014
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.
Zampieri S et al.
Plos One, 2012
Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.
Utsumi K et al.
Acta Neurologica Scandinavica, 2002
Molecular and structural studies of the GM2 gangliosidosis 0 variant.
Sakuraba H et al.
Journal of Human Genetics, 2002
Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation.
Gowda VK et al.
Journal of Pediatric Neurosciences, 0
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