Associated Papers
Juvenile/adult-type galactosialidosis with a homozygous CTSA variant without consanguinity.
Toki M et al.
Human Genome Variation, 2025
Lysosomal sialidase NEU1, its intracellular properties, deficiency, and use as a therapeutic agent.
Itoh K et al.
Glycoconjugate Journal, 2023
Clinical spectrum and outcome of nine patients with a novel genetic variant of galactosialidosis in the Kingdom of Bahrain.
Alsahlawi Z et al.
Jimd Reports, 2022
Reversal of neuroinflammation in novel GS model mice by single i.c.v. administration of CHO-derived rhCTSA precursor protein.
Horii Y et al.
Molecular Therapy. Methods & Clinical Development, 2022
Use of modified U1 small nuclear RNA for rescue from exon 7 skipping caused by 5'-splice site mutation of human cathepsin A gene.
Yamazaki N et al.
Gene, 2018
Galactosialidosis Type IIb with Bilateral Macular Cherry-Red Spots but Mild Dysfunction.
Fukuyo H et al.
Case Reports in Ophthalmology, 0
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