Associated Papers
Clinical and genetic features of a case with juvenile onset sandhoff disease.
Yin JH et al.
Bmc Neurology, 2023
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
Tim-Aroon T et al.
Bmc Pediatrics, 2021
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
Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.
Zhang W et al.
Metabolic Brain Disease, 2016
[Clinical and molecular characteristics of a child with juvenile Sandhoff disease].
Huang Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
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