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2006, ISBN 0801883261, viii, 249
Book
2016, ISBN 081669995X, 264 pages
Book
Current gene therapy, ISSN 1566-5232, 2018, Volume 18, Issue 2, pp. 68 - 89
GM2 gangliosidosis | Therapies | Tay-Sachs disease | Lysosomal storage disease | Neurodegeneration | Sandhoff disease | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Enzyme Replacement Therapy | Genetic Therapy | Tay-Sachs Disease - enzymology | Sandhoff Disease - pathology | Tay-Sachs Disease - therapy | Humans | Lysosomes - genetics | Lysosomes - enzymology | Sandhoff Disease - genetics | Infant | Rare Diseases | Tay-Sachs Disease - genetics | Animals | Sandhoff Disease - therapy | Bone Marrow Transplantation | Glycosphingolipids - metabolism | Lysosomes - pathology | Tay-Sachs Disease - pathology | Mice | Mutation | Sandhoff Disease - enzymology | beta-N-Acetylhexosaminidases - genetics | Disease Models, Animal | Gangliosidosis | Animal models | Disease | Gene transfer | Syngeneic grafts | Bone marrow transplantation | Ganglioside GM2 | Animal diseases | Lysosomal storage diseases | Nervous system | Transplantation | Substrates | Molecular chains | Hereditary diseases | Bone marrow | Genetics | Children
Journal Article
Journal of neurology, ISSN 0340-5354, 8/2019, Volume 266, Issue 8, pp. 1953 - 1959
Late-onset Tay–Sachs disease | GM2 gangliosidosis | Cerebellum | Neurology | Neurosciences | Medicine & Public Health | Ataxia | Neuroradiology | β-Hexosaminidase A | Proximal weakness of lower extremities | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Tay-Sachs Disease - psychology | Mental Disorders - epidemiology | Humans | Middle Aged | Male | Muscular Atrophy - diagnostic imaging | Czech Republic - epidemiology | Mental Disorders - psychology | Young Adult | Tay-Sachs Disease - diagnostic imaging | Cerebellum - diagnostic imaging | Muscular Atrophy - psychology | Tay-Sachs Disease - epidemiology | Adolescent | Age of Onset | Adult | Female | Mental Disorders - diagnostic imaging | Muscular Atrophy - epidemiology | Cohort Studies | Enzymes | Neurodegenerative diseases | Mental disorders | Atrophy | Tay-Sachs disease | Magnetic resonance imaging | Enzymatic activity | Motor neuron diseases | Genetic analysis | Point mutation | Speech | Mutation | Index Medicus
Journal Article
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 05/2017, Volume 114, Issue 5, pp. 470 - 472
Brain - diagnostic imaging | Diagnosis, Differential | Exotropia - genetics | Tay-Sachs Disease - diagnosis | Genes, Recessive - genetics | Humans | Infant | Ophthalmoscopes | Tay-Sachs Disease - genetics | Exotropia - diagnosis | Magnetic Resonance Imaging | Chromosome Aberrations | Female | Macula Lutea - abnormalities | Index Medicus
Journal Article
Cochrane database of systematic reviews, ISSN 1469-493X, 01/2018, Volume 2018, Issue 3, pp. CD010849 - CD010849
HEMOGLOBIN DISORDERS | PRIMARY-CARE | GENERAL-PRACTITIONERS | FOLLOW-UP | RANDOMIZED CONTROLLED-TRIAL | GLOBAL EPIDEMIOLOGY | HEALTH-CARE | GENETIC SCREENING-PROGRAMS | BETA-THALASSEMIA | CARRIER | OTHER TOPICS | Anemia, Sickle Cell | Risk assessment & screening | Genetic disorders | Cystic fibrosis: diagnosis | Lungs & airways | Cystic Fibrosis | Risk Assessment | Thalassemia | Tay‐Sachs Disease | Blood disorders | Other genetic disorders | Child health | Thalassaemia | Fibrosis: cystic fibrosis | Medicine General & Introductory Medical Sciences | Sickle cell disease | Genetic Carrier Screening | Preconception Care | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Cystic Fibrosis - genetics | Humans | Female | Thalassemia - genetics | Tay-Sachs Disease - genetics | Anemia, Sickle Cell - genetics | Index Medicus
Journal Article
Cochrane database of systematic reviews, ISSN 1469-493X, 01/2015, Volume 2015, Issue 8, pp. CD010849 - CD010849
POPULATION | HEMOGLOBIN DISORDERS | PRIMARY-CARE | GENERAL-PRACTITIONERS | RANDOMIZED CONTROLLED-TRIAL | GLOBAL EPIDEMIOLOGY | HEALTH-CARE | BETA-THALASSEMIA | SCREENING-PROGRAMS | CARRIER | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Risk Assessment | Cystic Fibrosis - genetics | Humans | Female | Thalassemia - genetics | Tay-Sachs Disease - genetics | Genetic Carrier Screening | Anemia, Sickle Cell - genetics | Preconception Care | Index Medicus
Journal Article
Journal of neonatal nursing : JNN, ISSN 1355-1841, 12/2020, Volume 26, Issue 6, pp. 316 - 318
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 09/2018, Volume 13, Issue 1, pp. 152 - 152
GM2 gangliosidosis | High throughput screening | Cyclodextrin | Hexosaminidase A | HPβCD | Tay-Sachs disease | Enzyme replacement therapy | Induced pluripotent stem cells | Neural stem cells | Drug discovery | δ-tocopherol | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Cell Line | Tay-Sachs Disease - drug therapy | Tocopherols - therapeutic use | Induced Pluripotent Stem Cells - physiology | Tay-Sachs Disease - therapy | Humans | Neural Stem Cells - physiology | Male | Hexosaminidase A - metabolism | Neural Stem Cells - cytology | Tay-Sachs Disease - genetics | Microsatellite Repeats - genetics | Enzyme Replacement Therapy - methods | Tandem Mass Spectrometry | Pichia - metabolism | 2-Hydroxypropyl-beta-cyclodextrin - therapeutic use | Fluorescent Antibody Technique | Tay-Sachs Disease - metabolism | Female | Induced Pluripotent Stem Cells - cytology | Cell Differentiation - physiology | Neural Stem Cells - metabolism | Gangliosidoses, GM2 - metabolism | Pharmaceutical research | Usage | Neurons | Stem cells | Models | Product development | Pharmaceutical industry | Enzymes | Phenotypes | Disease | Neurodegenerative diseases | Ganglioside GM2 | Lysosomes | Cardiomyocytes | Lipids | Medical screening | Hereditary diseases | Proteins | Genotype & phenotype | Neurodegeneration | Fibroblasts | Skin | Mutation | Chromosome 15 | Pluripotency | Inhibitory postsynaptic potentials | Index Medicus
Journal Article
Current medicinal chemistry, ISSN 0929-8673, 12/2017, Volume 24, Issue 39, pp. 4368 - 4398
Therapy | Transcription factors | Disease modeling | Reprogramming | iPSC | Drug discovery | Pluripotency | Pharmacology & Pharmacy | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Chemistry, Medicinal | Science & Technology | Parkinson Disease - therapy | Thalassemia - therapy | Schizophrenia - therapy | Tay-Sachs Disease - therapy | Humans | Alzheimer Disease - therapy | Hemophilia A - therapy | Stem Cell Transplantation | Anemia, Sickle Cell - therapy | Animals | Drug Evaluation, Preclinical | Induced Pluripotent Stem Cells | Disease Models, Animal | Medical research | Parkinson's disease | Neurodegenerative diseases | Mental disorders | Anemia | Toxicity | Clinical trials | Schizophrenia | Drug screening | Screening | Neurotoxicity | Medical science | Tay-Sachs disease | Technology | Hemophilia | Stem cells | Modelling | Alzheimers disease | Sickle cell disease | Alzheimer's disease | Movement disorders | Inhibitory postsynaptic potentials | Index Medicus
Journal Article