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1. Full Text Lysosomal storage disease 1 - Phenotype, diagnosis, and treatment of Gaucher's disease
by Grabowski, Gregory A
The Lancet (British edition), ISSN 0140-6736, 10/2008, Volume 372, Issue 9645, pp. 1263 - 1271
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Errors of metabolism | Biological and medical sciences | Metabolic diseases | General aspects | Medical sciences | Lipids (lysosomal enzyme disorders, storage diseases) | Genotype & phenotype | Databases | Disease | Industrialized nations | Alternative medicine | Population | Appointments & personnel changes | Gene therapy
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2. Full Text Lysosomal lipid storage diseases
by Schulze, Heike and Sandhoff, Konrad
Cold Spring Harbor perspectives in biology, ISSN 1943-0264, 2011, Volume 3, Issue 6, pp. 1 - 19
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Carrier Proteins - physiology | Sphingolipids - chemistry | Humans | Lipidoses - pathology | Lipid Metabolism | Sphingolipids - metabolism | Sphingolipids - physiology | Lysosomes - physiology | Lysosomal Storage Diseases - pathology | Endocytosis | Carrier Proteins - metabolism | Lysosomes - metabolism | Biological Transport | Models, Biological | Lysosomal Storage Diseases - metabolism | Lipidoses - metabolism | Intracellular Membranes - metabolism | Index Medicus | 028
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3. 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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4. Full Text The heart in Anderson-Fabry disease and other lysosomal storage disorders
by Linhart, Aleš and Elliott, Perry M
Heart (British Cardiac Society), ISSN 1355-6037, 04/2007, Volume 93, Issue 4, pp. 528 - 535
Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Cardiology. Vascular system | Errors of metabolism | Biological and medical sciences | Metabolic diseases | Medical sciences | Lipids (lysosomal enzyme disorders, storage diseases) | Diagnosis, Differential | Lysosomal Storage Diseases - therapy | Humans | Middle Aged | Fabry Disease - complications | Male | Fabry Disease - pathology | Lysosomal Storage Diseases - pathology | Heart Diseases - etiology | Female | Lysosomal Storage Diseases - complications | Fabry Disease - therapy | Enzymes - therapeutic use | Heart Diseases - pathology | Metabolism, Inborn errors of | Complications and side effects | Development and progression | Cardiovascular diseases | Fabry's disease | Heart | Enzymes | Stroke | Lysergic acid diethylamide--LSD | Cardiomyopathy | Intellectual disabilities | Cardiovascular disease | Metabolism | Males | Pulmonary hypertension | Womens health | Protein folding | Coronary vessels | Medical prognosis | Mutation | Kidney diseases | Females | Chromosomes | Binding sites | Index Medicus | Abridged Index Medicus | Education in Heart | Anderson‐Fabry disease | lysosomal storage disorders | heart
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5. Full Text Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond
by Shachar, Tamar and Bianco, Christophe Lo and Recchia, Alessandra and Wiessner, Christoph and Raas‐Rothschild, Annick and Futerman, Anthony H
Movement disorders, ISSN 0885-3185, 08/2011, Volume 26, Issue 9, pp. 1593 - 1604
neurodegenerative diseases | synuclein | Gaucher disease | Parkinson's disease | parkinsonism | glucosylceramide | lysosomal storage disorders | lipid | Parkinsonism | Lysosomal storage disorders | Neurodegenerative diseases | Glucosylceramide | Synuclein | Lipid | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Glucosylceramidase - genetics | Gaucher Disease - genetics | Glucosylceramidase - deficiency | Humans | Gaucher Disease - etiology | Lysosomal Storage Diseases - epidemiology | Gaucher Disease - epidemiology | Lysosomal Storage Diseases - genetics | Parkinson Disease - genetics | Index Medicus
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6. Full Text Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease
by Sarkar, Sovan and Carroll, Bernadette and Buganim, Yosef and Maetzel, Dorothea and Ng, Alex H.M and Cassady, John P and Cohen, Malkiel A and Chakraborty, Souvik and Wang, Haoyi and Spooner, Eric and Ploegh, Hidde and Gsponer, Joerg and Korolchuk, Viktor I and Jaenisch, Rudolf
Cell reports (Cambridge), ISSN 2211-1247, 12/2013, Volume 5, Issue 5, pp. 1302 - 1315
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Membrane Glycoproteins - metabolism | Cholesterol - deficiency | Humans | Cells, Cultured | Rats | Cholesterol - metabolism | Autophagy | beta-Cyclodextrins - pharmacology | Niemann-Pick Disease, Type C - metabolism | Membrane Glycoproteins - genetics | Animals | Lysosomes - metabolism | HEK293 Cells | Mice | Neurons - metabolism | Neurons - drug effects | Niemann-Pick Disease, Type C - genetics | SNARE Proteins - metabolism | Index Medicus | Niemann-Pick type C1 disease | Autophagy enhancer | Neurodegeneration | Lysosomal storage disorder | Lipid storage disorder | Cholesterol
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7. Full Text The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
by Fischer, J and Lefevre, C and Morava, E and Mussini, J.M and Laforet, P and Negre-Salvayre, A and Lathrop, M and Salvayre, R
Nature genetics, ISSN 1061-4036, 2007, Volume 39, Issue 1, pp. 28 - 30
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Humans | Cells, Cultured | Phospholipases A - metabolism | Lipase | Lipidoses - genetics | Transfection | Phospholipases A - genetics | RNA Interference | DNA Mutational Analysis | Phospholipases A - chemistry | Female | Muscular Diseases - genetics | Mutation | Complications and side effects | Care and treatment | Genetic disorders | Gene mutations | Physiological aspects | Diagnosis | Research | Risk factors | Proteins | Ribonucleic acid | Genetics | Lipids | Ribonucleic acid--RNA | Index Medicus | Lipidoses | Muscular Diseases | Phospholipases A
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8. Full Text Muscle MRI in neutral lipid storage disease (NLSD)
by Garibaldi, Matteo and Tasca, Giorgio and Diaz-Manera, Jordi and Ottaviani, Pierfancesco and Laschena, Francesco and Pantoli, Donatella and Gerevini, Simonetta and Fiorillo, Chiara and Maggi, Lorenzo and Tasca, Elisabetta and D’Amico, Adele and Musumeci, Olimpia and Toscano, Antonio and Bruno, Claudio and Massa, Roberto and Angelini, Corrado and Bertini, Enrico and Antonini, Giovanni and Pennisi, Elena Maria
Journal of neurology, ISSN 0340-5354, 7/2017, Volume 264, Issue 7, pp. 1334 - 1342
Lipid storage disease | Neurology | Neurosciences | Medicine & Public Health | NLSD | ABHD5 | Muscle MRI | Neuroradiology | PNPLA2 | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Severity of Illness Index | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Adipose Tissue - diagnostic imaging | Lipid Metabolism, Inborn Errors - diagnostic imaging | Ichthyosiform Erythroderma, Congenital - diagnostic imaging | Magnetic Resonance Imaging | Muscle, Skeletal - diagnostic imaging | Adolescent | Lower Extremity | Adult | Female | Italy | Upper Extremity | Aged | Muscular Diseases - diagnostic imaging | Cohort Studies | Care and treatment | Usage | Lipid metabolism disorders | Diagnosis | Magnetic resonance imaging | Limbs | Lipids | Lipid metabolism | Skeletal muscle | Leg | Myopathy | Ichthyosis | Index Medicus | Original Communication
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