Characterization of glycan substrates accumulating in GM1 Gangliosidosis
Sign Up to like & getrecommendations! 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… read more here.
Keywords: glycan metabolites; glb1; gangliosidosis; gm1 gangliosidosis ... See more keywords
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C
Sign Up to like & getrecommendations! Published in 2022 at "Biomedicines"
DOI: 10.3390/biomedicines10081962
Abstract: Background: Early diagnosis is essential in the field of lysosomal storage disorders for the proper management of patients and for starting therapies before irreversible damage occurs, particularly in neurodegenerative conditions. Currently, specific biomarkers for the… read more here.
Keywords: flow cytometric; pick type; gangliosidosis; niemann pick ... See more keywords
Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients
Sign Up to like & getrecommendations! Published in 2022 at "Balkan Medical Journal"
DOI: 10.4274/balkanmedj.galenos.2022.2022-3-75
Abstract: Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration, hypotonia, visceromegaly, macular cherry-red spots, skeletal dysplasia, and coarse and dysmorphic face are the major clinical… read more here.
Keywords: gangliosidosis; diagnosis; clinical laboratory; gm1 gangliosidosis ... See more keywords