Associated Papers
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2026
Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.
Eichler F et al.
Nature Medicine, 2025
Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India.
Nair LS et al.
Pediatric Neurology, 2024
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.
Rahmani Z et al.
Metabolic Brain Disease, 2022
Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.
Lippa N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.
Abtahi R et al.
Journal of Molecular Neuroscience : Mn, 2022
Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India.
Gowda VK et al.
Journal of Pediatric Genetics, 2022
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
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
Identification of mutations in HEXA and HEXB in Sandhoff and Tay-Sachs diseases: a new large deletion caused by Alu elements in HEXA.
Dastsooz H et al.
Human Genome Variation, 2018
Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.
Abiri M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.
Tamhankar PM et al.
Journal of Human Genetics, 2016
Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.
Masri A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2014
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
Gort L et al.
Gene, 2012
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
Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients.
Aryan H et al.
Iranian Journal of Public Health, 2012
GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.
Kaya N et al.
American Journal of Medical Genetics. Part A, 2011