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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...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Otros Autores: Desnick, Robert J. (Editor ), Kaback, Michael M. (Editor )
Formato: Electrónico eBook
Idioma:Inglés
Publicado: San Diego, CA ; London : Academic, 2001.
Colección:Advances in genetics ; v. 44.
Temas:
Acceso en línea:Texto completo
Descripción
Sumario: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.
Descripción Física:1 online resource (xx, 363 pages : illustrations).
Bibliografía:Includes bibliographical references and index.
ISBN:9780080490304
0080490301
0120176440
9780120176441
1281004766
9781281004765