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Characterization of glycan substrates accumulating in GM1 Gangliosidosis
INTRODUCTION: GM1 gangliosidosis is a rare autosomal recessive genetic disorder caused by the disruption of the GLB1 gene that encodes β-galactosidase, a lysosomal hydrolase that removes β-linked galactose from the non-reducing end of glycans. Deficiency of this catabolic enzyme leads to the lysosom...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6838976/ https://www.ncbi.nlm.nih.gov/pubmed/31720227 http://dx.doi.org/10.1016/j.ymgmr.2019.100524 |