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Tay-Sachs Disease /
Tay-Sachs disease is a rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells, producing central nervous system degeneration. In infants, it is characterized by progressive mental deterioration, blindness, par...
| Clasificación: | Libro Electrónico |
|---|---|
| Otros Autores: | , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
San Diego, CA ; London :
Academic,
2001.
|
| Colección: | Advances in genetics ;
v. 44. |
| Temas: | |
| Acceso en línea: | Texto completo |
MARC
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| 245 | 0 | 0 | |a Tay-Sachs Disease / |c edited by Robert J. Desnick, Michael M. Kaback. |
| 264 | 1 | |a San Diego, CA ; |a London : |b Academic, |c 2001. | |
| 300 | |a 1 online resource (xx, 363 pages : |b illustrations). | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 490 | 1 | |a Advances in genetics ; |v v. 44 | |
| 546 | |a Text in English. | ||
| 550 | |a Made available through: Science Direct. | ||
| 504 | |a Includes bibliographical references and index. | ||
| 505 | 0 | |a Tay-Sachs Disease: From Clinical Description to Molecular Defect -- Barney Sachs and The History of the Neuropathologic Description of Tay-Sachs Disease -- Early Epidemiologic Studies of Tay-Sachs Disease -- Identification of the Accumulated Ganglioside -- Discovery of the Hexosaminidase Isoenzymes -- Tay-Sachs Disease: The Search for the Enzymatic Defect -- Discovery of [beta]-Hexosaminidase a Deficiency in Tay-Sachs Disease -- The GM2-gangliosidoses and the elucidation of the [beta]-hexosaminidase system -- Subunit structure of hte hexosaminidase isozymes -- Molecular genetics of the [beta]xosaminidase isoenzymes: An introduction -- Cloning the [beta]-hexosaminidase genes -- The search for the genetic lesion in Ashkenazi Jews with classic Tay-Sachs disease -- The [beta]-hexosaminidase story in Toronto: From enzyme structure to gene mutation -- Biosynthesis of normal and mutant [beta]-hexosaminidases -- Recognition and delineation of [beta]-hexosaminidase [alpha]-chain variants: A historical and personal perspective -- Late-onset GM2 gangliosidosis and other hexosaminidase mutations among Jews -- Naturally occurring mutations in GM2 gangliosidosis: A compendium -- Targeting the hexosaminidase genes: Mouse models of the GM2 gangliosidoses -- Molecular epidemiology of Tay-Sachs disease -- Screening and prevention in Tay-Sachs disease: Origins, update, and impact -- Not preventing--yet, just avoiding Tay-Sachs disease -- Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases -- The Dor Yeshorim story: Community-based carrier screening for Tay-Sachs disease -- Tay-Sachs disease and preimplantation genetic diagnosis -- Treatment of GM2 gangliosidosis: Past experiences, implications, and future prospects -- Tay-Sachs disease: Psychologic care of carriers and affected families -- Future perspectives for Tay-Sachs disease. | |
| 520 | |a Tay-Sachs disease is a rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells, producing central nervous system degeneration. In infants, it is characterized by progressive mental deterioration, blindness, paralysis, epileptic seizures, and death by age four. Adult-onset Tay-Sachs occurs in persons who have a genetic mutation that is similar but allows some production of the missing enzyme. There is no treatment for Tay-Sachs. | ||
| 650 | 0 | |a Tay-Sachs disease. | |
| 650 | 2 | |a Tay-Sachs Disease |0 (DNLM)D013661 | |
| 650 | 6 | |a Maladie de Tay-Sachs. |0 (CaQQLa)201-0017785 | |
| 650 | 7 | |a 44.77 metabolic diseases. |0 (NL-LeOCL)077596811 |2 bcl | |
| 650 | 7 | |a PSYCHOLOGY |x Mental Illness. |2 bisacsh | |
| 650 | 7 | |a Tay-Sachs disease. |2 fast |0 (OCoLC)fst01144095 | |
| 650 | 7 | |a Amaurotische Idiotie |2 gnd |0 (DE-588)4142168-1 | |
| 650 | 7 | |a Hexosaminidase |2 gnd |0 (DE-588)4312286-3 | |
| 700 | 1 | |a Desnick, Robert J., |e editor. | |
| 700 | 1 | |a Kaback, Michael M., |e editor. | |
| 776 | 0 | 8 | |i Print version: |t Tay-Sachs disease (print) |w (OCoLC)46393297 |
| 830 | 0 | |a Advances in genetics ; |v v. 44. | |
| 856 | 4 | 0 | |u https://sciencedirect.uam.elogim.com/science/book/9780120176441 |z Texto completo |