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1. Full Text Lysosomal storage diseases - The horizon expands
by Boustany, Rose-Mary Naaman
Nature reviews. Neurology, ISSN 1759-4758, 10/2013, Volume 9, Issue 10, pp. 583 - 598
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neuronal Ceroid-Lipofuscinoses - therapy | Lysosomal Storage Diseases - therapy | Humans | Lysosomal Storage Diseases - metabolism | Neuronal Ceroid-Lipofuscinoses - metabolism | Lysosomal Storage Diseases - etiology | Neuronal Ceroid-Lipofuscinoses - etiology | Metabolism, Inborn errors of | Care and treatment | Neuronal ceroid-lipofuscinosis | Research | Risk factors | Index Medicus
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2. Full Text Lysosomal Storage Diseases: From Pathophysiology to Therapy
by Parenti, Giancarlo and Andria, Generoso and Ballabio, Andrea
Annual review of medicine, ISSN 0066-4219, 1/2015, Volume 66, Issue 1, pp. 471 - 486
proteostasis regulators | substrate reduction therapy | gene therapy | pharmacological chaperone therapy | enzyme replacement therapy | Enzyme Replacement Therapy | Genetic Therapy | Molecular Chaperones | Lysosomal Storage Diseases - therapy | Humans | Hematopoietic Stem Cell Transplantation | Lysosomal Storage Diseases - genetics | Lysosomal Storage Diseases - metabolism | Metabolism, Inborn errors of | Development and progression | Care and treatment | Enzymes | Physiology | Pharmacology | Metabolic disorders | Index Medicus
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3. Full Text Lysosomal storage disorders – challenges, concepts and avenues for therapy: Beyond rare diseases
by Marques, André R.A and Saftig, Paul
Journal of cell science, ISSN 0021-9533, 01/2019, Volume 132, Issue 2, p. jcs221739
Therapy | Lysosomal exocytosis | Lysophagy | Motility of lysosomes | Lysosomal positioning | Lysosomal storage disease | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Hydrolases - metabolism | Rare Diseases - genetics | Hydrolases - genetics | Lysosomal Storage Diseases - therapy | Lysosome-Associated Membrane Glycoproteins - metabolism | Humans | Lysosomes - genetics | Lysosomal Storage Diseases - genetics | Exocytosis | Autophagy | Lysosomal Storage Diseases - pathology | Animals | Lysosomes - metabolism | Rare Diseases - therapy | Lysosomal Storage Diseases - metabolism | Lysosome-Associated Membrane Glycoproteins - genetics | Lysosomes - pathology | Rare Diseases - pathology | Rare Diseases - metabolism | Index Medicus
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4. Full Text Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder-murine Pompe disease
by Raben, Nina and Schreiner, Cynthia and Baum, Rebecca and Takikita, Shoichi and Xu, Sengen and Xie, Tao and Myerowitz, Rachel and Komatsu, Masaaki and Van Der Meulen, Jack H and Nagaraju, Kanneboyina and Ralston, Evelyn and Plotz, Paul H
Autophagy, ISSN 1554-8627, 11/2010, Volume 6, Issue 8, pp. 1078 - 1089
Binding | Proteins | Landes | Calcium | Bioscience | Biology | Cell | Cycle | Cancer | Organogenesis | Pompe disease | Atg7 | Lysosomal glycogen storage | Enzyme replacement therapy | Myopathy | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Beclin-1 | Enzyme Replacement Therapy | Phosphorylation | Ubiquitin - metabolism | Glycogen Synthase Kinase 3 beta | Muscle Fibers, Fast-Twitch - ultrastructure | Glycogen Synthase Kinase 3 - metabolism | Autophagy | Glycogen Storage Disease Type II - pathology | Glycogen Storage Disease Type II - therapy | Apoptosis Regulatory Proteins - metabolism | Animals | Glycogen - metabolism | alpha-Glucosidases - therapeutic use | alpha-Glucosidases - deficiency | Muscle Fibers, Fast-Twitch - pathology | Integrases - metabolism | Mice | Muscle Fibers, Fast-Twitch - enzymology | Myosin Light Chains - metabolism | alpha-Glucosidases - metabolism | Disease Models, Animal | Index Medicus | Basic Research Paper | enzyme replacement therapy | myopathy | lysosomal glycogen storage
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5. Treatment of lysosomal storage disorders: Progress with enzyme replacement therapy
by Rohrbach, Marianne and Clarke, Joe T.R
Drugs (New York, N.Y.), ISSN 0012-6667, 2007, Volume 67, Issue 18, pp. 2697 - 2716
Fabry's disease, treatment | Storage disorders | Gaucher's disease type I, treatment | Glycogen storage disease type II, treatment | Mucopolysaccharidosis, treatment | Pharmacology & Pharmacy | Toxicology | Life Sciences & Biomedicine | Science & Technology | Recombinant Proteins - therapeutic use | Lysosomal Storage Diseases - drug therapy | Enzymes - genetics | Humans | Glycogen Storage Disease Type II - drug therapy | Treatment Outcome | Clinical Trials as Topic | Fabry Disease - drug therapy | Enzymes - therapeutic use | Gaucher Disease - drug therapy | Mucopolysaccharidoses - drug therapy
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6. Full Text Sphingolipid lysosomal storage disorders
by Platt, Frances M
Nature (London), ISSN 0028-0836, 2014, Volume 510, Issue 7503, pp. 68 - 75
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Sphingolipids - biosynthesis | Lysosomal Storage Diseases - therapy | Glycosphingolipids - biosynthesis | Humans | Lysosomal Storage Diseases - genetics | Sphingolipids - metabolism | Biosynthetic Pathways | Lysosomal Storage Diseases - pathology | Animals | Lysosomes - metabolism | Lysosomal Storage Diseases - drug therapy | Cell Death | Glycosphingolipids - metabolism | Lysosomal Storage Diseases - metabolism | Parkinson Disease - metabolism | Metabolism, Inborn errors of | Medicine, Experimental | Medical research | Sphingolipids | Research | Properties | Enzymes | Pathogenesis | Parkinsons disease | Population | Biosynthesis | Mutation | Alzheimers disease | Metabolic disorders | Defects | Index Medicus
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