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1992, Background paper, ISBN 0160381290
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Cell metabolism, ISSN 1550-4131, 06/2013, Volume 17, Issue 6, pp. 941 - 953
Endocrinology & Metabolism | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Astrocytes - cytology | Mitochondrial Diseases - genetics | Electron Transport | Glucosylceramidase - genetics | Gaucher Disease - metabolism | Sequestosome-1 Protein | Heat-Shock Proteins - metabolism | Humans | Lysosomes - genetics | Cells, Cultured | Neurons - cytology | Mitochondria - metabolism | Parkinson Disease - genetics | Mice, Knockout | Animals | Gaucher Disease - genetics | Lysosomes - metabolism | Mitochondria - genetics | Mice | Parkinson Disease - metabolism | Autophagy - genetics | Adaptor Proteins, Signal Transducing - metabolism | alpha-Synuclein - metabolism | Disease Models, Animal | Proteins | High technology industry | Neurosciences | Developmental biology | Analysis | Quality control | Mitochondrial DNA | Index Medicus
Journal Article
Journal of neurochemistry, ISSN 0022-3042, 10/2016, Volume 139, Issue S1, pp. 77 - 90
Parkinson disease | alpha‐synuclein | Gaucher disease | glucocerebrosidase 1 (GBA1) | lysosome | mitochondria | alpha-synuclein | Biochemistry & Molecular Biology | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Mitochondria - enzymology | Glucosylceramidase - genetics | Humans | Lysosomes - genetics | Lysosomes - enzymology | Glucosylceramidase - metabolism | Parkinson Disease - genetics | Mutation - genetics | Animals | Gaucher Disease - genetics | Mitochondria - genetics | Parkinson Disease - enzymology | Parkinson Disease - diagnosis | Autophagy - genetics | Gaucher Disease - diagnosis | Gaucher Disease - enzymology | Ubiquitin | Enzymes | Parkinson's disease | Hydrolases | Genetic aspects | Muscle proteins | Risk factors | Adenosine triphosphate | Mitochondria | Mutation | Endoplasmic reticulum | Parkinsons disease | Index Medicus | Jörg B. Schulz and John Hardy | Review | Parkinson Disease. Guest Editors
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 08/2016, Volume 118, Issue 4, pp. 304 - 309
Pompe disease | Tandem mass spectrometry | Hurler disease | Gaucher disease | Lysosomal storage disorders | Krabbe disease | Niemann-Pick-A/B disease | Dried blood spot | Newborn screening | Fabry disease | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Dried Blood Spot Testing | Glucosylceramidase - blood | Humans | Mucopolysaccharidosis I - physiopathology | Male | Gaucher Disease - blood | Neonatal Screening | Leukodystrophy, Globoid Cell - physiopathology | Tandem Mass Spectrometry | Fabry Disease - blood | Female | Gaucher Disease - physiopathology | Lysosomal Storage Diseases - blood | Galactosylceramidase - blood | Glycogen Storage Disease Type II - blood | Infant, Newborn | Lysosomal Storage Diseases - classification | Mucopolysaccharidosis I - blood | alpha-Glucosidases - blood | Niemann-Pick Diseases - blood | Lysosomal Storage Diseases - genetics | Enzyme Assays | Niemann-Pick Diseases - physiopathology | Lysosomal Storage Diseases - pathology | Glycogen Storage Disease Type II - physiopathology | alpha-Galactosidase - blood | Fabry Disease - physiopathology | Iduronidase - blood | Leukodystrophy, Globoid Cell - blood | Sphingomyelin Phosphodiesterase - blood | Medicine, Experimental | Medical research | Medical screening | Mass spectrometry | Index Medicus | Niemann-Pick-A | B disease
Journal Article
Annals of neurology, ISSN 0364-5134, 06/2011, Volume 69, Issue 6, pp. 940 - 953
Neurosciences | 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 | Enzyme-Linked Immunosorbent Assay - methods | Glucosylceramidase - genetics | Humans | Mutagenesis, Site-Directed - methods | Green Fluorescent Proteins - genetics | Dose-Response Relationship, Drug | Lewy Body Disease - genetics | Transfection | alpha-Synuclein - genetics | Immunosuppressive Agents - pharmacology | Disease Models, Animal | Cell Line | Gene Expression Regulation - genetics | Cathepsin D - deficiency | Rats | Parkinson Disease - genetics | Mutation - genetics | Sirolimus - pharmacology | Mice, Knockout | Gene Expression Regulation - drug effects | Animals | Gaucher Disease - genetics | Cathepsin D - genetics | Mice | alpha-Synuclein - metabolism | Index Medicus
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 5/2014, Volume 137, Issue 5, pp. 1481 - 1495
Gaucher disease | Parkinson's disease | ambroxol | lysosome | glucocerebrosidase | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Errors of metabolism | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy | Biological and medical sciences | Metabolic diseases | Nervous system as a whole | Medical sciences | Nervous system (semeiology, syndromes) | Lipids (lysosomal enzyme disorders, storage diseases) | Ambroxol - pharmacology | Glucosylceramidase - genetics | Humans | Middle Aged | Glycoside Hydrolases - pharmacology | Male | Gene Expression Profiling | Aged, 80 and over | Adult | Female | Neuroblastoma - pathology | Fibroblasts - metabolism | Parkinson Disease - complications | Parkinson Disease - pathology | Gene Expression Regulation - genetics | Cells, Cultured | Glucosylceramidase - metabolism | Gaucher Disease - complications | Parkinson Disease - genetics | Mutation - genetics | Gene Expression Regulation - drug effects | Gaucher Disease - genetics | Fibroblasts - drug effects | Aged | Oxidative Stress - drug effects | Index Medicus | Abridged Index Medicus | Original | Parkinson’s disease
Journal Article
British journal of haematology, ISSN 0007-1048, 05/2014, Volume 165, Issue 4, pp. 427 - 440
glycosphingolipid | Gaucher disease | myeloma | thrombocytopenia | splenomegaly | Thrombocytopenia | Splenomegaly | Myeloma | Glycosphingolipid | Life Sciences & Biomedicine | Hematology | Science & Technology | Hematologic and hematopoietic diseases | Biological and medical sciences | Medical sciences | Tumors | Platelet diseases and coagulopathies | Glucosylceramidase - genetics | Humans | Lewy Body Disease - enzymology | Gaucher Disease - blood | Gaucher Disease - therapy | Splenectomy | 1-Deoxynojirimycin - therapeutic use | Lewy Body Disease - genetics | Lysosomes - metabolism | Splenomegaly - etiology | 1-Deoxynojirimycin - analogs & derivatives | Gaucher Disease - physiopathology | Lysosomes - pathology | Anemia - etiology | Gaucher Disease - enzymology | Enzyme Replacement Therapy | Genetic Predisposition to Disease | Thrombocytopenia - etiology | Combined Modality Therapy | Inflammation | Gaucher Disease - complications | Parkinson Disease - genetics | Unfolded Protein Response | Macrophage Activation | Multiple Myeloma - etiology | Parkinson Disease - enzymology | Glucosylceramidase - physiology | Glycosphingolipids - metabolism | Hemorrhagic Disorders - etiology | Disease Management | Gaucher Disease - classification | Index Medicus
Journal Article