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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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
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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