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Journal Article
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