Associated Papers
L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.
Castejón-Vega B et al.
Cells, 2021
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero D et al.
Plos One, 2016
27243974 (PubMed )
Supplement: pone.0156359.s002.xlsx › general_
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
Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.
Sheth J et al.
Annals of Indian Academy of Neurology, 0
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