Associated Papers
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.
Abtahi R et al.
Journal of Molecular Neuroscience : Mn, 2022
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase.
Kılıç M et al.
Metabolic Brain Disease, 2019
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
Early cardiac involvement in an infantile Sandhoff disease case with novel mutations.
Lee HF et al.
Brain & Development, 2017
Select a paper to view details