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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
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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
In today's world, responsible biocitizenship has become a new way of belonging in society. Individuals are expected to make "responsible" medical choices,... 
Human chromosome abnormalities | Tay-Sachs disease | Diagnosis | History | Racism | Great Britain | Genetic Testing | Jews | United States | Sociology | Tay-Sachs Disease | history | ethnology | Health Sciences
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3. 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
Tay–Sachs disease (TSD) is an inherited neurodegenerative disorder caused by a lysosomal β-hexosaminidase A deficiency due to mutations in the HEXA gene. The... 
Late-onset Tay–Sachs disease | GM2 gangliosidosis | Cerebellum | Neurology | Neurosciences | Medicine & Public Health | Ataxia | Neuroradiology | β-Hexosaminidase A | Proximal weakness of lower extremities | Late-onset Tay-Sachs disease | beta-Hexosaminidase A | CLINICAL NEUROLOGY | Enzymes | Neurodegenerative diseases | Mental disorders | Motor neuron disease | Atrophy | Tay-Sachs disease | Magnetic resonance imaging | Enzymatic activity | Genetic analysis | Point mutation | Speech | Mutation
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4. Tay-Sachs' disease
by Volk, Bruno W., 1909-1992
1964, viii, 158
Tay-Sachs disease
Book
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5. Full Text Opinion commune de la SOGC et du CCGM sur le dépistage génétique en contexte de procréation : Mise à jour à l'intention de l'ensemble des prestataires canadiens de soins de santé maternelle et de services en procréation, à l'ère des tests offerts directement aux consommateurs
by Wilson, R. Douglas, MD and De Bie, Isabelle, MD, Ph. D and Armour, Christine M., MD and Brown, Richard N., MD and Campagnolo, Carla, MSc and Carroll, June C., MD and Okun, Nan, MD and Nelson, Tanya, Ph. D and Zwingerman, Rhonda, MD
Journal of Obstetrics and Gynaecology Canada (JOGC), ISSN 1701-2163, 2016, Volume 38, Issue 8, pp. 763 - 787.e4
Résumé Objectif La présente directive clinique a été élaborée pour fournir aux prestataires canadiens de soins de santé maternelle et de services en... 
Obstetrics and Gynecology | hemophilia A | Fanconi anemia | hemophilia B | maple syrup urine disease | Canavan disease | familial dysautonomia | Bloom syndrome | Tay-Sachs disease | cystic fibrosis | Walker-Warburg | autosomal dominant disorder | spinal muscular atrophy | autosomal recessive disorder | perinatal autopsy | thalassemia | invasive prenatal testing | Carrier screening | Niemann-Pick | mucolipidosis | Gaucher disease | glycogen storage disease | X-linked disorder | Duchenne/Becker muscular dystrophy | prenatal screening | hemoglobinopathy | Fragile X | Index Medicus
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6. Leucodystrophies and poliodystrophies
by Vinken, P. J and Bruyn, G. W
1970, 1st ed., ISBN 0444100598, Volume 10., xiv, 699
Book
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7. Genetics, law, and social policy
by Reilly, Philip, 1947
1977, ISBN 0674346572, 275
Social aspects | Human genetics | Genetic counseling
Book
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8. Full Text Late onset Tay-Sachs disease may mimic adult SMA
by Praline, J and Guennoc, AM and Vourc'h, P and Sedel, F and Andres, CR and Corcia, P
REVUE NEUROLOGIQUE, ISSN 0035-3787, 06/2011, Volume 167, Issue 6-7, pp. 549 - 550
CLINICAL NEUROLOGY | Young Adult | Magnetic Resonance Imaging | Mutation, Missense - physiology | Tay-Sachs Disease - diagnosis | Humans | Muscular Atrophy, Spinal - chemically induced | Female | Tay-Sachs Disease - pathology | Hexosaminidase A - genetics | Muscle, Skeletal - pathology | Muscular Atrophy, Spinal - pathology | Tay-Sachs Disease - genetics
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9. Full Text Carrier Screening for Gaucher Disease: Lessons for Low-Penetrance, Treatable Diseases
by Zuckerman, Shachar and Lahad, Amnon and Shmueli, Amir and Zimran, Ari and Peleg, Leah and Orr-Urtreger, Avi and Levy-Lahad, Ephrat and Sagi, Michal
JAMA, ISSN 0098-7484, 09/2007, Volume 298, Issue 11, pp. 1281 - 1290
CONTEXT The aim of carrier screening is to prevent severe, untreatable genetic disease by identifying couples at risk before the birth of an affected child,... 
MEDICINE, GENERAL & INTERNAL | GENE | FREQUENCY | ASHKENAZI-JEWISH POPULATION | ISRAEL | DISORDERS | ETHNIC-GROUPS | MUTATIONS | PREVALENCE | ENZYME REPLACEMENT THERAPY | TAY-SACHS-DISEASE | Risk Assessment | Genetic Testing - statistics & numerical data | Humans | Middle Aged | Prenatal Diagnosis | Male | Genetic Counseling | Jews - genetics | Abortion, Induced | Pregnancy | Gaucher Disease - genetics | Genetic Testing - utilization | Gaucher Disease - prevention & control | Adult | Female | Heterozygote | Israel | Disease prevention | Genetic disorders | Couples | Jews | Medical treatment | Medical screening | Index Medicus | Abridged Index Medicus
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10. Full Text Sphingolipid metabolism diseases
by Kolter, Thomas and Sandhoff, Konrad
BBA - Biomembranes, ISSN 0005-2736, 2006, Volume 1758, Issue 12, pp. 2057 - 2079
Human diseases caused by alterations in the metabolism of sphingolipids or glycosphingolipids are mainly disorders of the degradation of these compounds. The... 
Ceramide | Sphingolipidose | Saposin | Lysosomal storage disease | lysosomal storage disease | BONE-MARROW-TRANSPLANTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | ACID-BETA-GLUCOSIDASE | MUCOPOLYSACCHARIDOSIS TYPE-VII | MEDIATED GENE-TRANSFER | LYSOSOMAL STORAGE DISORDERS | NIEMANN-PICK-DISEASE | ceramide | BIOPHYSICS | saposin | CENTRAL-NERVOUS-SYSTEM | sphingolipidose | ENZYME REPLACEMENT THERAPY | TAY-SACHS-DISEASE | GLOBOID-CELL LEUKODYSTROPHY
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11. Full Text Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype
by Yamada, Kenichiro and Takado, Yuhei and Kato, Yusuke S and Yamada, Yasukazu and Ishiguro, Hideaki and Wakamatsu, Nobuaki
Journal of Biochemistry, ISSN 0021-924X, 01/2013, Volume 153, Issue 1, pp. 111 - 119
The adult form of Sandhoff disease with the motor neuron disease phenotype is a rare neurodegenerative disorder caused by mutations in HEXB encoding the... 
adult form of Sandhoff disease | motor neuron disease phenotype | dimer formation | β-hexosaminidase | missense mutation | SUBSTITUTION | MISSENSE | CRYSTAL-STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | HYDROLYSIS | G(M2) GANGLIOSIDE | B DEFICIENCY | beta-hexosaminidase | HEXB GENE | MUTATIONS | TAY-SACHS-DISEASE | MOLECULAR-BASIS | Recombinant Proteins - metabolism | beta-Hexosaminidase beta Chain - genetics | beta-Hexosaminidase beta Chain - metabolism | Protein Structure, Secondary | Humans | Middle Aged | Protein Multimerization | Sandhoff Disease - metabolism | Models, Molecular | Recombinant Proteins - chemistry | Sandhoff Disease - genetics | Male | Mutant Proteins - metabolism | Sandhoff Disease - physiopathology | Motor Neuron Disease - metabolism | Motor Neuron Disease - genetics | Mutant Proteins - chemistry | Protein Structure, Quaternary | beta-Hexosaminidase beta Chain - chemistry | Motor Neuron Disease - physiopathology | Amino Acid Substitution | Index Medicus | Regular Papers
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12. Before birth
: prenatal testing for genetic disease
by Nightingale, Elena O and Goodman, Melissa, 1952
1990, ISBN 9780674063907, xii, 111
Popular works | Fetus | Prenatal diagnosis | Diagnosis | Abnormalities
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13. Ethical, social, and legal dimensions of screening for human genetic disease
by Bergsma, Daniel and Institute of Society, Ethics and the Life Sciences. Genetics Research Group
1974, Birth defects original article series, ISBN 9780883720660, Volume 10, no. 6, viii, 272
Medical screening | Medical genetics
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14. Cerebral sphingolipidoses
: a symposium on Tay-Sachs' disease and allied disorders
by Aronson, Stanley M and Volk, Bruno W and Jewish Chronic Disease Hospital, Brooklyn. Isaac Albert Research Institute and International Symposium on the Cerebral Sphingolipidoses, [2d] Brooklyn and New York, 1961
1962, 456
Tay-Sachs disease
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15. Full Text Enfermedad de Tay-Sachs
by Pozo Alonso, Albia Josefina and Pozo Lauzán, Desiderio Rafael and Estol de la Guardia, Norka and Menéndez Sainz, Caridad
Revista Cubana de Pediatria, ISSN 0034-7531, 2014, Volume 86, Issue 4, pp. 529 - 534
GM2 gangliosidosis | Tay-Sachs disease | Cherry-red spot | Neurodegenerative disease | Lysosomal storage disease | Sphyngolipidosis
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16. Full Text Effective Gene Therapy in an Authentic Model of Tay-Sachs-Related Diseases
by M. Begoña Cachón-González and Susan Z. Wang and Andrew Lynch and Robin Ziegler and Seng H. Cheng and Timothy M. Cox
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2006, Volume 103, Issue 27, pp. 10373 - 10378
Tay-Sachs disease is a prototypic neurodegenerative disease. Lysosomal storage of GM2 ganglioside in Tay-Sachs and the related disorder, Sandhoff disease, is... 
Nervous system diseases | Spinal cord | Genetic vectors | Neurodegenerative diseases | Mice | Gene therapy | Sandhoff disease | Gangliosides | Tay Sachs disease | Gangliosidoses | GM2 gangliosidosis | Neurodegeneration | Adeno-associated virus | LYSOSOMAL STORAGE DISEASE | BONE-MARROW-TRANSPLANTATION | MULTIDISCIPLINARY SCIENCES | neurodegeneration | adeno-associated virus | SANDHOFF-DISEASE | VIRAL VECTORS | N-BUTYLDEOXYNOJIRIMYCIN | MOUSE MODELS | BETA-HEXOSAMINIDASE ACTIVITY | CENTRAL-NERVOUS-SYSTEM | MICE | Inflammation - pathology | Tay-Sachs Disease - therapy | beta-N-Acetylhexosaminidases - metabolism | Survival Rate | Microscopy, Electron | Body Weight - genetics | Tay-Sachs Disease - genetics | Genetic Vectors - genetics | Protein Subunits - metabolism | Mice, Knockout | beta-N-Acetylhexosaminidases - deficiency | Gene Expression Regulation, Enzymologic | Inflammation - metabolism | Animals | Tay-Sachs Disease - metabolism | Glycosphingolipids - metabolism | Inflammation - genetics | Tay-Sachs Disease - pathology | Inflammation - prevention & control | beta-N-Acetylhexosaminidases - genetics | Disease Models, Animal | Genetic Therapy - methods | Protein Subunits - genetics | Tay-Sachs disease | Research | Proteins | Nervous system | Genetic disorders | Neurological disorders | Index Medicus | Biological Sciences
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17. Full Text Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation
by Allende, Maria L and Cook, Emily K and Larman, Bridget C and Nugent, Adrienne and Brady, Jacqueline M and Golebiowski, Diane and Sena-Esteves, Miguel and Tifft, Cynthia J and Proia, Richard L
Journal of Lipid Research, ISSN 0022-2275, 2018, Volume 59, Issue 3, pp. 550 - 563
Sandhoff disease, one of the GM2 gangliosidoses, is a lysosomal storage disorder characterized by the absence of beta-hexosaminidase A and B activity and the... 
GM2 gangliosidosis | Tay-Sachs disease | Brain lipids | Brain development | Clustered Regularly Interspaced Short Palindromic Repeats/Cas9 | Patient-derived induced pluripotent stem cells | Sphingolipids | Gangliosides | Storage diseases | brain development | brain lipids | NERVOUS-SYSTEM | HUMAN BRAIN | sphingolipids | BONE-MARROW-TRANSPLANTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | gangliosides | patient-derived induced pluripotent stem cells | G(M2) GANGLIOSIDOSIS | CORTICAL DEVELOPMENT | MOUSE MODELS | storage diseases | MICE | STORAGE-DISEASES | DIFFERENTIATION | TAY-SACHS-DISEASE | Induced Pluripotent Stem Cells - pathology | Neurons - pathology | Cell Proliferation | Lysosomes - metabolism | Organoids - pathology | Sandhoff Disease - pathology | beta-N-Acetylhexosaminidases - metabolism | Humans | Cells, Cultured | Cerebral Cortex - pathology | Cell Differentiation | beta-N-Acetylhexosaminidases - deficiency | CRISPR | Organoids | Neurodegeneration | Stem cells | Fibroblasts | Ganglioside GM2 | Nervous system | Genomes | Children | Neurodevelopmental disorders | Gene expression | Pluripotency | Patient-Oriented and Epidemiological Research | Clustered Regularly Interspaced Short Palindromic Repeats | Cas9
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18. Full Text Microglial Activation Precedes Acute Neurodegeneration in Sandhoff Disease and Is Suppressed by Bone Marrow Transplantation
by Ryuichi Wada and Cynthia J. Tifft and Richard L. Proia
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2000, Volume 97, Issue 20, pp. 10954 - 10959
Sandhoff disease is a lysosomal storage disorder characterized by the absence of β -hexosaminidase and storage of G ganglioside and related glycolipids in the... 
Biological Sciences | Spinal cord | Nervous system diseases | Neurodegenerative diseases | Neurons | Brain stem | Cell death | Central nervous system diseases | Sandhoff disease | Microglia | Apoptosis | cDNA microarray | Tumor necrosis factor-α | Macrophage | NEURONAL APOPTOSIS | DEMENTIA | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | macrophage | apoptosis | MOUSE MODELS | CELL-DEATH | tumor necrosis factor-alpha | CENTRAL-NERVOUS-SYSTEM | TAY-SACHS | CREUTZFELDT-JAKOB-DISEASE | microglia | EXPRESSION | BRAIN | Microglia - metabolism | Neurons - pathology | Sandhoff Disease - pathology | beta-N-Acetylhexosaminidases - metabolism | Humans | Sandhoff Disease - metabolism | Inflammation | Transplantation, Homologous | Sandhoff Disease - physiopathology | Animals | Microglia - physiology | Sandhoff Disease - therapy | Bone Marrow Transplantation | Neurons - physiology | Microglia - pathology | Mice | Neurons - metabolism |