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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
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
Journal Article
Movement disorders, ISSN 0885-3185, 11/2015, Volume 30, Issue 13, pp. 1830 - 1834
glucocerebrosidase (GCase) | alpha‐synuclein | Parkinson's disease | chaperone‐mediated autophagy (CMA) | Hsc70 | lysosome | chaperone-mediated autophagy (CMA) | alpha-synuclein | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Leukocytes, Mononuclear - metabolism | Glucosylceramidase - genetics | Parkinson Disease - pathology | Lysosome-Associated Membrane Glycoproteins - metabolism | Gene Expression Regulation - genetics | HSC70 Heat-Shock Proteins - metabolism | Humans | Lysosomes - genetics | Male | Glucosylceramidase - metabolism | Parkinson Disease - genetics | Mutation - genetics | RNA, Messenger - metabolism | Case-Control Studies | Lysosomes - metabolism | Lysosome-Associated Membrane Glycoproteins - genetics | Female | alpha-Synuclein - genetics | alpha-Synuclein - metabolism | Heat shock proteins | Enzymes | Hydrolases | RNA | Index Medicus
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. 135 - 139
Dried blood spots (DBS) | Glucocerebroside | Newborn screening (NBS) | β-Glucocerebrosidase (GBA) | Gaucher disease (GD) | Lysosomal storage disorder (LSD) | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Gaucher Disease - metabolism | Dried Blood Spot Testing | Glucosylceramidase - blood | Humans | Fluorescence | Biomarkers - blood | Case-Control Studies | Mass Screening | Blood Specimen Collection | Biological Assay | Gaucher Disease - diagnosis | Tandem Mass Spectrometry - methods | Cohort Studies | Index Medicus | Gaucher Disease (GD) | Lysosomal Storage Disorder (LSD) | Newborn Screening (NBS)
Journal Article
Bulletin of experimental biology and medicine, ISSN 0007-4888, 02/2020, Volume 168, Issue 4, pp. 423 - 426
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Glucosylceramidase - genetics | Chemokine CCL2 - immunology | Glucosylceramidase - blood | Humans | Middle Aged | Tumor Necrosis Factor-alpha - blood | Tumor Necrosis Factor-alpha - genetics | Interleukin-13 - immunology | Male | Interleukin-1beta - genetics | Case-Control Studies | Interleukin-1beta - blood | Interleukin-13 - genetics | Interleukin-2 - immunology | Tumor Necrosis Factor-alpha - immunology | Female | Interferon-gamma - genetics | Interleukin-13 - blood | Gene Expression | Parkinson Disease - pathology | Enzyme-Linked Immunosorbent Assay | Parkinson Disease - immunology | Glucosylceramidase - immunology | Interleukin-1beta - immunology | Chemokine CCL2 - genetics | Inflammation | Parkinson Disease - genetics | Chemokine CCL2 - blood | Interleukin-2 - genetics | Interferon-gamma - immunology | Aged | Mutation | Parkinson Disease - blood | Interferon-gamma - blood | Interleukin-2 - blood | Care and treatment | Parkinson's disease | Tumor necrosis factor | Analysis | Genes | Genetic aspects | Enzyme-linked immunosorbent assay | Index Medicus
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 2012, Volume 135, Issue 8, pp. 2440 - 2448
brain imaging | Parkinson disease | positron emission tomography (PET) | lysosomal storage disorders | genetic risk | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Radionuclide investigations | Nervous system | Investigative techniques, diagnostic techniques (general aspects) | Medical sciences | Glucosylceramidase - genetics | Cerebrovascular Circulation - physiology | Humans | Middle Aged | Dopamine - biosynthesis | Male | Parkinsonian Disorders - enzymology | Glucosylceramidase - metabolism | Positron-Emission Tomography - methods | Young Adult | Mutation - physiology | Adolescent | Parkinsonian Disorders - diagnostic imaging | Adult | Female | Parkinsonian Disorders - genetics | Aged | Index Medicus | Abridged Index Medicus | Original
Journal Article
Blood, ISSN 0006-4971, 2011, Volume 118, Issue 16, pp. e118 - e127
Life Sciences & Biomedicine | Hematology | Science & Technology | Recombinant Proteins - therapeutic use | Enzyme Replacement Therapy | Enzyme Therapy | Glucosylceramidase - genetics | Chemokines, CC - blood | Humans | Genotype | Male | Gaucher Disease - blood | Recombinant Proteins - genetics | Macrophages - cytology | Psychosine - analogs & derivatives | Phenotype | Gaucher Disease - genetics | Spectrometry, Mass, Electrospray Ionization | Glucosylceramidase - therapeutic use | Female | Psychosine - blood | Hexosaminidases - blood | Gaucher Disease - drug therapy | Gaucher Disease - enzymology | Index Medicus | Abridged Index Medicus | Phagocytes, Granulocytes, and Myelopoiesis
Journal Article
International journal of molecular sciences, ISSN 1422-0067, 07/2020, Volume 21, Issue 13, p. 4577
Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Multidisciplinary | Science & Technology | Prognosis | Follow-Up Studies | Humans | Middle Aged | Male | Gaucher Disease - blood | Biomarkers - blood | Gaucher Disease - pathology | Gaucher Disease - therapy | Psychosine - analogs & derivatives | Young Adult | Enzyme Replacement Therapy - methods | Dried Blood Spot Testing - methods | Adolescent | Adult | Female | Aged | Glucosylceramidase - administration & dosage | Psychosine - blood | Child | Cohort Studies | Enzymes | Laboratories | Health services | Mass spectroscopy | Patients | Blood | Blood levels | Studies | Telemedicine | Biomarkers | Diagnostic systems | Mass spectrometry | Monitoring | Gaucher's disease | Index Medicus | Lyso-Gb1 | enzyme replacement therapy | Gaucher disease | biomarker | monitoring
Journal Article
Blood cells, molecules, & diseases, ISSN 1079-9796, 04/2015, Volume 54, Issue 4, pp. 307 - 314
LC-MS/MS | Glucocerebrosidase | Gaucher disease | Quantification | Mass spectrometry | Glucosylsphingosine | Life Sciences & Biomedicine | Hematology | Science & Technology | Enzyme Replacement Therapy | Reproducibility of Results | Biomarkers - urine | Chemokines, CC - blood | Humans | Carbon Isotopes | Gaucher Disease - blood | Biomarkers - blood | Case-Control Studies | Psychosine - analogs & derivatives | Gaucher Disease - urine | Tandem Mass Spectrometry | Psychosine - urine | Reference Standards | Glucosylceramidase - deficiency | Spectrometry, Mass, Electrospray Ionization | Glucosylceramidase - therapeutic use | Psychosine - blood | Gaucher Disease - diagnosis | Hexosaminidases - blood | Gaucher Disease - drug therapy | Observer Variation | Enzymes | Standards | Sphingosine | Index Medicus
Journal Article
Biological chemistry, ISSN 1431-6730, 04/2018, Volume 399, Issue 5, pp. 447 - 452
peripheral blood mononuclear cells | spin labeling | Gaucher disease | electron paramagnetic resonance | membrane fluidity | Peripheral blood mononuclear cells | Spin labeling | Membrane fluidity | Electron paramagnetic resonance | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Leukocytes, Mononuclear - pathology | Electron Spin Resonance Spectroscopy | Humans | Cell Membrane - pathology | Adult | Gaucher Disease - blood | Glucosylceramidase - administration & dosage | Gaucher Disease - therapy | Infusions, Intravenous | Membrane Fluidity | Gaucher Disease - diagnosis | Physiological aspects | Cell membranes | Health aspects | Blood cells | Gaucher's disease | Index Medicus
Journal Article
American journal of hematology, ISSN 0361-8609, 09/2017, Volume 92, Issue 9, pp. E561 - E563
Life Sciences & Biomedicine | Hematology | Science & Technology | Recombinant Proteins - therapeutic use | Enzyme Replacement Therapy | Chemokines, CC - blood | Humans | Middle Aged | Child, Preschool | Male | Gaucher Disease - blood | Erythrocyte Membrane - drug effects | Psychosine - analogs & derivatives | Young Adult | Glucosylceramidase - therapeutic use | Adolescent | Membrane Lipids - analysis | Adult | Female | Gaucher Disease - physiopathology | Erythrocyte Membrane - chemistry | Psychosine - blood | Child | Erythrocyte Deformability - drug effects | Hexosaminidases - blood | Gaucher Disease - drug therapy | Enzymes | Biopharmaceutics | Gaucher's disease | Index Medicus
Journal Article