Associated Papers
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.
Ahmad R et al.
Neurogenetics, 2025
Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.
Sperb F et al.
Gene, 2013
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
Morrone A et al.
Human Mutation, 2000
Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.
Silva CM et al.
Human Mutation, 1999
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