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Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100524
Abstract: 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…
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Keywords:
glycan metabolites;
glb1;
gangliosidosis;
gm1 gangliosidosis ... See more keywords