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Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 2011, Volume 1812, Issue 7, pp. 782 - 790
Journal Article
Journal Article
Biopolymers and Cell, ISSN 0233-7657, 2016, Volume 32, Issue 6, pp. 450 - 460
GM1-gangliosidosis (MIM# 230500) and mucopolysaccharidosis IV (Morquio B, MIM# 230500) are autosomal-recessive diseases, which belong to the group of lysosomal... 
GM1-gangliosidosis | Morquio B disease | Gene GLB1 | gene GLB1
Journal Article
Biochimica et Biophysica Acta - Molecular Basis of Disease, ISSN 0925-4439, 05/2011
GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence... 
Life Sciences | Biochemistry, Molecular Biology
Journal Article
Biochimica et Biophysica Acta - Molecular Basis of Disease, ISSN 0925-4439, 05/2011
GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence... 
Life Sciences | Biochemistry, Molecular Biology
Journal Article
Biochimica et Biophysica Acta - Molecular Basis of Disease, ISSN 0925-4439, 05/2011
GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence... 
Life Sciences | Biochemistry, Molecular Biology
Journal Article
World Journal of Pediatrics, ISSN 1708-8569, 11/2012, Volume 8, Issue 4, pp. 359 - 362
This paper aims to report GLB1 activities and mutation analysis of three patients from the mainland of China, one with Morquio B disease and two with GM1... 
Pediatrics | β-galactosidase | Medicine & Public Health | Surgery | enzyme assays | mutation analysis | Intensive / Critical Care Medicine | Maternal and Child Health | Morquio B disease | Imaging / Radiology | GM1 gangliosidosis | Pediatric Surgery | Enzyme assays | Mutation analysis | beta-galactosidase | GM1-GANGLIOSIDOSIS | PEDIATRICS
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 07/2010, Volume 100, Issue 3, pp. 262 - 268
G -gangliosidosis (GM1) and Morquio B disease (MBD) are rare lysosomal storage disorders caused by mutations in the gene GLB1. Its main gene product, human... 
Gangliosidosis | Morquio B disease | DLHex-DGJ | Enzyme enhancement therapy | Pharmacological chaperone | β-Galactosidase
Journal Article
MOLECULAR THERAPY, ISSN 1525-0016, 03/2013, Volume 21, Issue 3, pp. 526 - 532
Lysosonnal beta-galactosidase (beta-Gal) deficiency causes a group of disorders that include neuronopathic GM(1) gangliosidosis and non-neuronopathic Morquio B... 
MEDICINE, RESEARCH & EXPERIMENTAL | HUMAN BETA-GALACTOSIDASE | MORQUIO B DISEASE | FLUOROUS IMINOALDITOLS | GAUCHER-DISEASE | LYSOSOMAL DISEASES | CHEMICAL CHAPERONE | ENZYME REPLACEMENT | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GM1 GANGLIOSIDOSIS | GENETICS & HEREDITY | BIOLOGICAL EVALUATION | MURINE G(M1)-GANGLIOSIDOSIS
Journal Article
EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY, ISSN 0223-5234, 01/2017, Volume 126, pp. 160 - 170
This report is about the identification, synthesis and initial biological characterization of derivatives of 4-epi-isofagomine as pharmacological chaperones... 
Galactosidase inhibitors | CHEMISTRY, MEDICINAL | Iminosugars | STORAGE DISORDERS | FABRY DISEASE | GM GANGLIOSIDOSIS | GLB1 GENE | THERAPY | ENZYME | Pharmacological chaperones | G(M1)-GANGLIOSIDOSIS | GM1 GANGLIOSIDOSIS | Morquio disease type B | 1-DEOXYGALACTONOJIRIMYCIN | GM1-gangliosidosis | PHARMACOLOGICAL CHAPERONE
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2003, Volume 78, Issue 1, pp. 51 - 58
Journal Article
Journal Article
MOLECULAR GENETICS AND METABOLISM, ISSN 1096-7192, 07/2010, Volume 100, Issue 3, pp. 262 - 268
Journal Article