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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...
| Cote: | Libro Electrónico |
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| Autres auteurs: | , |
| Format: | Électronique eBook |
| Langue: | Inglés |
| Publié: |
San Diego, CA ; London :
Academic,
2001.
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| Collection: | Advances in genetics ;
v. 44. |
| Sujets: | |
| Accès en ligne: | Texto completo |
| Résumé: | 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. |
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| Description matérielle: | 1 online resource (xx, 363 pages : illustrations). |
| Bibliographie: | Includes bibliographical references and index. |
| ISBN: | 9780080490304 0080490301 0120176440 9780120176441 1281004766 9781281004765 |