Associated Papers
Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.
Eichler F et al.
Nature Medicine, 2025
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.
Hoffman JD et al.
Molecular Genetics & Genomic Medicine, 2013
Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.
Nakagawa S et al.
Jimd Reports, 2012
Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
Park NJ et al.
Pediatric Research, 2010
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