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Lancet, The, ISSN 0140-6736, 2012, Volume 379, Issue 9813, pp. 335 - 341
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2005, Volume 352, Issue 4, pp. 362 - 372
Journal Article
Nature Biotechnology, ISSN 1087-0156, 12/2012, Volume 30, Issue 12, pp. 1225 - 1231
Lysosomal storage diseases are treated with human lysosomal enzymes produced in mammalian cells. Such enzyme therapeutics contain relatively low levels of... 
N-LINKED OLIGOSACCHARIDES | POMPE-DISEASE | YARROWIA-LIPOLYTICA | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MOUSE MODEL | STORAGE DISORDERS | ACID ALPHA-GLUCOSIDASE | PICHIA-PASTORIS | FABRY-DISEASE | SACCHAROMYCES-CEREVISIAE | MANNOSE 6-PHOSPHATE RECEPTORS | Biotechnology | Lysosomal Storage Diseases - enzymology | Glycoside Hydrolases - genetics | Humans | Lysosomes - enzymology | Molecular Sequence Data | Glycogen Storage Disease Type II - drug therapy | Pichia - enzymology | Glycogen Storage Disease Type II - enzymology | Arthrobacter - genetics | Biological Transport, Active | Lysosomal Storage Diseases - drug therapy | Glycoside Hydrolases - chemistry | Yarrowia - enzymology | Arthrobacter - enzymology | Yarrowia - genetics | Disease Models, Animal | Recombinant Proteins - metabolism | Mutagenesis, Site-Directed | Glycogen Storage Disease Type II - genetics | Bacterial Proteins - genetics | Catalytic Domain - genetics | Lysosomal Storage Diseases - genetics | Models, Molecular | Recombinant Proteins - genetics | Mice, Knockout | alpha-Glucosidases - genetics | Animals | Mannosephosphates - metabolism | alpha-Glucosidases - deficiency | Pichia - genetics | Bacterial Proteins - metabolism | Protein Conformation | Mice | Glycoside Hydrolases - metabolism | alpha-Glucosidases - metabolism | Physiological aspects | Lysosomes | Enzymes | Glycosidases | Bacteria | Biosynthesis | Biochemistry | Yeast | Metabolic disorders | Index Medicus
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 | Index Medicus | 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
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 08/2014, Volume 9, Issue 1, pp. 102 - 102
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 06/2012, Volume 7, Issue 1, pp. 35 - 35
textabstractBackground: Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosidase deficiency, acid maltase deficiency, OMIM # 232300) is... 
Pompe disease | Genotype phenotype correlations | Lysosomal storage diseases | Glycogen storage disease type II | Enzyme replacement therapy | GAA | MEDICINE, RESEARCH & EXPERIMENTAL | MALTASE DEFICIENCY | NATURAL-HISTORY | SKELETAL-MUSCLE | ALGLUCOSIDASE ALPHA | GLYCOGEN-STORAGE-DISEASE | MUTATION | FREQUENCY | INFANTS | GENETICS & HEREDITY | ACID ALPHA-GLUCOSIDASE | ONSET | Enzyme Replacement Therapy | Cardiomyopathy, Hypertrophic - genetics | Genetic Predisposition to Disease | Cross-Sectional Studies | Genetic Association Studies | Glycogen Storage Disease Type II - genetics | Humans | Middle Aged | Male | Cardiomyopathy, Hypertrophic - enzymology | Glycogen Storage Disease Type II - therapy | Glycogen Storage Disease Type II - physiopathology | Glycogen Storage Disease Type II - enzymology | Young Adult | alpha-Glucosidases - genetics | Cardiomyopathy, Hypertrophic - physiopathology | Muscle, Skeletal - physiopathology | Adolescent | Adult | Female | Mutation | Cardiomyopathy, Hypertrophic - therapy | Germany | Infant, Newborn | Glycogenosis | Gene mutations | Genetic aspects | Research | Diagnosis | Health aspects | Risk factors | Medical research | Amylases | Locomotives | Glycogen | Analysis | Genes | Medicine, Experimental | Muscles | Amino acids | Development and progression | Biotechnology industry | Genotype & phenotype | Manuscripts | Index Medicus
Journal Article