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Human Molecular Genetics, ISSN 0964-6906, 2/2008, Volume 17, Issue 4, pp. 469 - 477
It is estimated that more than 40 different lysosomal storage disorders (LSDs) cumulatively affect one in 5000 live births, and in the majority of the LSDs,... 
ACTIVATION | UNFOLDED PROTEIN RESPONSE | NEURONAL CEROID-LIPOFUSCINOSES | THIOESTERASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | LEADS | ENDOPLASMIC-RETICULUM STRESS | INCL | BRAIN | Gangliosidosis, GM1 - metabolism | Superoxide Dismutase - genetics | Apoptosis - drug effects | Humans | Endoplasmic Reticulum - metabolism | RNA, Messenger - metabolism | Lysosomal Storage Diseases, Nervous System - pathology | Neuronal Ceroid-Lipofuscinoses - pathology | Calnexin - genetics | Mitochondrial Proton-Translocating ATPases - genetics | Taurochenodeoxycholic Acid - pharmacology | Heat-Shock Proteins - genetics | Gangliosidosis, GM1 - genetics | Lysosomes - metabolism | Neuronal Ceroid-Lipofuscinoses - genetics | Lysosomal Storage Diseases - drug therapy | Endoplasmic Reticulum - drug effects | Glutaredoxins - genetics | Nuclear Proteins - genetics | Methylamines - pharmacology | Lysosomal Storage Diseases, Nervous System - drug therapy | Neuronal Ceroid-Lipofuscinoses - drug therapy | Catalase - genetics | RNA, Messenger - genetics | Cells, Cultured | Molecular Chaperones - genetics | Oxidative Stress - genetics | Lysosomal Storage Diseases - genetics | Neuronal Ceroid-Lipofuscinoses - metabolism | Gangliosidosis, GM1 - pathology | Lysosomal Storage Diseases, Nervous System - metabolism | Genetic Markers | DNA-Binding Proteins - genetics | Lysosomal Storage Diseases, Nervous System - genetics | Regulatory Factor X Transcription Factors | Lysosomal Storage Diseases - pathology | Protein Folding | Lysosomal Storage Diseases - metabolism | Transcription Factors | Apoptosis - physiology | Index Medicus
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 Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 08/2008, Volume 118, Issue 8, pp. 2868 - 2876
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 06/2017, Volume 12, Issue 1, pp. 117 - 117
Journal Article