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PloS one, 2018, Volume 13, Issue 7, p. e0200008
Given the large and expanding quantity of publicly available sequencing data, it should be possible to extract incidence information for monogenic diseases... 
Genetic Variation | Exome - genetics | Mucopolysaccharidosis III - enzymology | Acetylglucosaminidase - metabolism | Mucopolysaccharidosis III - genetics | Acetylglucosaminidase - chemistry | Humans | Models, Molecular | Protein Conformation | Mutation, Missense | Acetylglucosaminidase - genetics | Incidence
Journal Article
PloS one, 2019, Volume 14, Issue 1, p. e0207836
Sanfilippo syndrome type B (Sanfilippo B; Mucopolysaccharidosis type IIIB) occurs due to genetic deficiency of lysosomal alpha-N-acetylglucosaminidase (NAGLU)... 
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 12/2019, Volume 21, p. 100524
GM1 gangliosidosis is a rare autosomal recessive genetic disorder caused by the disruption of the gene that encodes β-galactosidase, a lysosomal hydrolase that... 
Glycoanalysis | Beta-galactosidase | Disease biomarkers | Glycan metabolites | GLB1 | GM1 gangliosidosis
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S122 - S122
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, pp. S67 - S67
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 01/2013, Volume 288, Issue 3, pp. 1428 - 1438
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2014, Volume 111, Issue 41, pp. 14870 - 14875
Journal Article
JOURNAL OF BIOLOGICAL CHEMISTRY, ISSN 0021-9258, 01/2013, Volume 288, Issue 3, pp. 1428 - 1438
We have used a peptide-based targeting system to improve lysosomal delivery of acid alpha-glucosidase (GAA), the enzyme deficient in patients with Pompe... 
INSULIN | STORAGE | ALGLUCOSIDASE ALPHA | ENZYME | RECOMBINANT | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | DISEASE | II BINDING-SITE | MANNOSE 6-PHOSPHATE RECEPTOR | INFANTILE | Humans | Mutant Chimeric Proteins - genetics | Half-Life | Lysosomes - enzymology | Glycogen Storage Disease Type II - drug therapy | Receptor, IGF Type 2 - metabolism | Glycogen Storage Disease Type II - enzymology | Myoblasts - drug effects | Glycogen - metabolism | Insulin-Like Growth Factor II - genetics | Transfection | Muscle, Skeletal - drug effects | Mutant Chimeric Proteins - metabolism | HEK293 Cells | Biological Transport - drug effects | Disease Models, Animal | Lysosomes - drug effects | Glucan 1,4-alpha-Glucosidase - genetics | Muscle, Skeletal - enzymology | Glycogen Storage Disease Type II - genetics | Glycosylation | Myoblasts - pathology | Insulin-Like Growth Factor II - metabolism | Receptor, IGF Type 2 - agonists | Enzyme Replacement Therapy - methods | Animals | Plasmids | Glucan 1,4-alpha-Glucosidase - metabolism | Mice | Kinetics | Muscle, Skeletal - pathology | Drug Delivery Systems - methods | Myoblasts - enzymology | Molecular Bases of Disease | Enzyme Replacement Therapy | Glycogen | CI-MPR | Pompe | Muscle | Receptor Endocytosis | Lysosomal Storage Disease | Muscular Dystrophy | Glycogen Storage Disease | IGF-II
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S72 - S72
Journal Article
Journal Article
The Journal of biological chemistry, ISSN 0021-9258, 09/2019, p. jbc.RA119.009811
Autosomal recessive mutations in the galactosidase beta 1 ( ) gene cause lysosomal β-galactosidase (Beta-Gal) deficiency, resulting in accumulation of... 
Journal Article