Associated Papers
Spectrum of Genetic Mutations Among Iranian Patients with Gangliosidosis.
Khalilian S et al.
Biochemical Genetics, 2025
P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.
Rahmani Z et al.
Metabolic Brain Disease, 2022
Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2-gangliosidoses.
Mansouri-Movahed F et al.
Clinical Case Reports, 2020
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
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