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1. The troubled dream of genetic medicine
: ethnicity and innovation in Tay-Sachs, cystic fibrosis, and sickle cell disease
by Wailoo, Keith
2006, ISBN 0801883261, viii, 249
Book
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2. Testing fate
: Tay-Sachs disease and the right to be responsible
by Reuter, Shelley Z. 1968- author. (Shelley Zipora)
2016, ISBN 081669995X, 264 pages
Human chromosome abnormalities | Tay-Sachs disease | Diagnosis | History | Racism | Great Britain | Genetic Testing | Jews | United States | Sociology | Tay-Sachs Disease | history | ethnology | Health Sciences | SOCIAL SCIENCE | Disease & Health Issues | MEDICAL
Book
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3. Genetics and therapies for GM2 gangliosidosis
by Cachón-González, María Begoña and Zaccariotto, Eva and Cox, Timothy Martin
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
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4. Full Text Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay–Sachs disease
by Jahnová, Helena and Poupětová, Helena and Jirečková, Jitka and Vlášková, Hana and Košťálová, Eva and Mazanec, Radim and Zumrová, Alena and Mečíř, Petr and Mušová, Zuzana and Magner, Martin
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
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5. Full Text Cherry-red spot in a 13-month-old child
by Hohberger, B and Stenger, N and Trollmann, R and Mardin, C Y and Gusek-Schneider, G-C
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
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6. Full Text Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease
by Hussein, Norita and Weng, Stephen F and Kai, Joe and Kleijnen, Jos and Qureshi, Nadeem
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
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7. Full Text Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease
by Hussein, N and Weng, S.F and Kai, J and Kleijnen, J and Qureshi, N
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
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8. Full Text Tay-Sachs disease
by Lopez Vasquez, Kathy
Journal of neonatal nursing : JNN, ISSN 1355-1841, 12/2020, Volume 26, Issue 6, pp. 316 - 318
Tay-sachs disease | HEXA gene mutations | Late onset tay-sachs disease | Early onset tay-sachs disease | Etiology of tay-sachs disease | Juvenile tay-sachs disease | HEXA gene | And lysosomal storage disorder
Journal Article
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9. Full Text Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease
by Vu, Mylinh and Li, Rong and Baskfield, Amanda and Lu, Billy and Farkhondeh, Atena and Gorshkov, Kirill and Motabar, Omid and Beers, Jeanette and Chen, Guokai and Zou, Jizhong and Espejo-Mojica, Angela J and Rodríguez-López, Alexander and Alméciga-Díaz, Carlos J and Barrera, Luis A and Jiang, Xuntian and Ory, Daniel S and Marugan, Juan J and Zheng, Wei
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
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10. Induced pluripotent stem cell technology: A paradigm shift in medical science for drug screening and disease modeling
by Nair, Meera and Sandhu, Sardul Singh and Sharma, Anil Kumar
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
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