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BBA - Molecular Basis of Disease, ISSN 0925-4439, 2011, Volume 1812, Issue 7, pp. 782 - 790
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
Journal Article
BRAIN & DEVELOPMENT, ISSN 0387-7604, 06/2013, Volume 35, Issue 6, pp. 515 - 523
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
Molecular Genetics and Metabolism, ISSN 1096-7192, 2003, Volume 78, Issue 1, pp. 51 - 58
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 GENETICS AND METABOLISM, ISSN 1096-7192, 08/2008, Volume 94, Issue 4, pp. 391 - 396
Journal Article
FUTURE MEDICINAL CHEMISTRY, ISSN 1756-8919, 09/2013, Volume 5, Issue 13, pp. 1551 - 1558
A growing body of evidence suggests that misfolding of a mutant protein followed by its aggregation or premature degradation in the endoplasmic reticulum is... 
ENZYME-REPLACEMENT THERAPY | CHEMISTRY, MEDICINAL | GM1 GANGLIOSIDOSIS | HUMAN BETA-GALACTOSIDASE | PROTEIN-MISFOLDING DISEASES | HUMAN ALPHA-GALACTOSIDASE | MORQUIO B DISEASE | LYSOSOMAL STORAGE DISORDERS | FABRY DISEASE | PHARMACOLOGICAL CHAPERONE | GAUCHER-DISEASE
Journal Article
Human Mutation, ISSN 1059-7794, 07/2011, Volume 32, Issue 7, pp. 843 - 852
Journal Article
Metabolic Brain Disease, ISSN 0885-7490, 12/2018, Volume 33, Issue 6, pp. 2051 - 2057
Journal Article