Associated Papers
Spectrum of Genetic Mutations Among Iranian Patients with Gangliosidosis.
Khalilian S et al.
Biochemical Genetics, 2025
A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China.
Xie H et al.
Medicine, 2023
Role of induced pluripotent stem cells in lysosomal storage diseases.
Kido J et al.
Molecular and Cellular Neurosciences, 2020
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
Khan S et al.
Bmc Medical Genetics, 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
Lysosomal storage diseases.
Ferreira CR et al.
Translational Science of Rare Diseases, 2017
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
A frequent TG deletion near the polyadenylation signal of the human HEXB gene: occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3' untranslated region.
Kleiman FE et al.
Human Mutation, 1998
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