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1. Lysosomal disorders of the brain
: recent advances in molecular and cellular pathogenesis and treatment
by Platt, Frances M and Walkley, Steven U
2004, ISBN 0198508786, xxvii. 447
Brain | Lysosomal storage diseases | Treatment | Metabolism | Disorders | Disorders of the Nervous System
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2. 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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3. Full Text Autophagy in lysosomal storage disorders
by Lieberman, Andrew P and Puertollano, Rosa and Raben, Nina and Slaugenhaupt, Susan and Walkley, Steven U and Ballabio, Andrea
Autophagy, ISSN 1554-8627, 05/2012, Volume 8, Issue 5, pp. 719 - 730
autophagy | mucopolysaccharidoses | lysosomal storage disorders | lysosomes | glycogenosis | sphingolipidoses | Mucolipidosis Type IV | Binding | Proteins | Landes | Calcium | Bioscience | Biology | Cell | Cycle | Cancer | Organogenesis | Mucolipidosis type IV | Sphingolipidoses | Glycogenosis | Lysosomal storage disorders | Mucopolysaccharidoses | Lysosomes | Autophagy | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Animals | Muscles - ultrastructure | Models, Biological | Humans | Lysosomal Storage Diseases - etiology | Muscles - pathology | Lysosomal Storage Diseases - pathology | Index Medicus | Review
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4. Full Text Autophagy, lipophagy and lysosomal lipid storage disorders
by Ward, Carl and Martinez-Lopez, Nuria and Otten, Elsje G and Carroll, Bernadette and Maetzel, Dorothea and Singh, Rajat and Sarkar, Sovan and Korolchuk, Viktor I
Biochimica et biophysica acta. Molecular and cell biology of lipids, ISSN 1388-1981, 04/2016, Volume 1861, Issue 4, pp. 269 - 284
Autophagy | Lipid storage disorders | Lipid metabolism | Biochemistry & Molecular Biology | Biophysics | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Fatty Liver - genetics | Fatty Liver - metabolism | Lipid Metabolism, Inborn Errors - genetics | Lipid Metabolism, Inborn Errors - metabolism | Signal Transduction | TOR Serine-Threonine Kinases - metabolism | Fatty Liver - pathology | Humans | Lysosomal Storage Diseases - genetics | Lysosomal Storage Diseases - pathology | Mechanistic Target of Rapamycin Complex 1 | Multiprotein Complexes - metabolism | Animals | Lysosomes - metabolism | Lipid Metabolism, Inborn Errors - pathology | Lysosomal Storage Diseases - metabolism | Lipid Metabolism - genetics | Lysosomes - pathology | Autophagy - genetics | Lipids | Analysis
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5. Full Text Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
by Mechtler, Thomas P, MD and Stary, Susanne, PhD and Metz, Thomas F, MSc and De Jesús, Víctor R, PhD and Greber-Platzer, Susanne, MD and Pollak, Arnold, Prof and Herkner, Kurt R, PhD and Streubel, Berthold, Prof and Kasper, David C, PhD
The Lancet (British edition), ISSN 0140-6736, 2012, Volume 379, Issue 9813, pp. 335 - 341
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Public health. Hygiene-occupational medicine | Public health. Hygiene | General aspects | Prevention and actions | Biological and medical sciences | Medical sciences | Epidemiology | alpha-Galactosidase - genetics | Sphingomyelin Phosphodiesterase - genetics | Glucosylceramidase - genetics | Fabry Disease - genetics | Glucosylceramidase - blood | Humans | Male | Neonatal Screening | Incidence | Lysosomal Storage Diseases - diagnosis | Female | Niemann-Pick Diseases - diagnosis | Niemann-Pick Diseases - genetics | Infant, Newborn | alpha-Glucosidases - blood | Glycogen Storage Disease Type II - genetics | Lysosomal Storage Diseases - epidemiology | Austria - epidemiology | Lysosomal Storage Diseases - genetics | alpha-Galactosidase - blood | alpha-Glucosidases - genetics | Gaucher Disease - genetics | Glycogen Storage Disease Type II - diagnosis | Mutation | Fabry Disease - diagnosis | Gaucher Disease - diagnosis | Sphingomyelin Phosphodiesterase - blood | Metabolism, Inborn errors of | Infants (Newborn) | Usage | Medical examination | Diagnosis | Research | Babies | Quality control | Cystic fibrosis | Medical screening | Metabolism | Disease control | Blood | Metabolic disorders | Index Medicus | Abridged Index Medicus
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6. 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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