Isbn: 9781441943668 - lysosomal storage disorders (12 risultati)

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  • Lingua: Inglese

    Editore: Springer, 2010

    1441943668 / 9781441943668

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  • Lingua: Inglese

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    Taschenbuch. Condizione: Neu. Druck auf Anfrage Neuware - Printed after ordering - Scientific progress has been rapid in lysosomal biology during the last six decades. Its application to human disease is nothing less than spectacular. In no other group of disorders has knowledge and clinical utility progressed so speedily. Recall that the organelle was described in just 1955. Since then, the biochemical alterations and storage materials were described, the enzyme deficiencies discovered, the gene coding of these glycoproteins cloned and thousands of mutations defined. These advances have resulted in highly improved diagnosis for more than 50 diseases. For five diseases, including the most common lysosomal storage disorder, molecular therapy is a reality, extremely effective and very safe. This higher plateau of medical approaches to human disease is something to which all translational scientists aspire and only a few actually witness. The relief of pain and suffering is a tribute to the ideas and work of many dedicated investigators. Much of that work is presented in this text. Despite our ability to treat some of these diseases through enzyme replacement therapy (ERT) and, accurately define different diseases that look alike, there is much to be learned about lysosomal disease. With each step up the barrier to knowledge, a new point of view is attained, a fresh perspective. Much is seen more clearly and many 'allegories of the cave' are dispelled forever. Yet, our new view demands a new vision drawing us to find better definitions of what we see. This is how it has been with lysosomal diseases.…

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    Lingua: Inglese

    Editore: Humana, 2010

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    Taschenbuch. Condizione: Neu. Lysosomal Storage Disorders | John A. Barranger (u. a.) | Taschenbuch | xx | Englisch | 2010 | Humana | EAN 9781441943668 | Verantwortliche Person für die EU: Springer Verlag GmbH, Tiergartenstr. 17, 69121 Heidelberg, juergen[dot]hartmann[at]springer[dot]com | Anbieter: preigu. …

  • Lingua: Inglese

    Editore: Springer, 2010

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  • Lingua: Inglese

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  • Lingua: Inglese

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    Condizione: New. Dieser Artikel ist ein Print on Demand Artikel und wird nach Ihrer Bestellung fuer Sie gedruckt. Describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapiesProvides the historical evolution of the fieldOrganized as a textbook with disease-specific chaptersInvaluable resourc.…

  • Lingua: Inglese

    Editore: Springer, Humana Nov 2010, 2010

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    Da: BuchWeltWeit Ludwig Meier e.K., Bergisch Gladbach, GermaniaBuchWeltWeit Ludwig Meier e.K.

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    Taschenbuch. Condizione: Neu. This item is printed on demand - it takes 3-4 days longer - Neuware -Scientific progress has been rapid in lysosomal biology during the last six decades. Its application to human disease is nothing less than spectacular. In no other group of disorders has knowledge and clinical utility progressed so speedily. Recall that the organelle was described in just 1955. Since then, the biochemical alterations and storage materials were described, the enzyme deficiencies discovered, the gene coding of these glycoproteins cloned and thousands of mutations defined. These advances have resulted in highly improved diagnosis for more than 50 diseases. For five diseases, including the most common lysosomal storage disorder, molecular therapy is a reality, extremely effective and very safe. This higher plateau of medical approaches to human disease is something to which all translational scientists aspire and only a few actually witness. The relief of pain and suffering is a tribute to the ideas and work of many dedicated investigators. Much of that work is presented in this text. Despite our ability to treat some of these diseases through enzyme replacement therapy (ERT) and, accurately define different diseases that look alike, there is much to be learned about lysosomal disease. With each step up the barrier to knowledge, a new point of view is attained, a fresh perspective. Much is seen more clearly and many 'allegories of the cave' are dispelled forever. Yet, our new view demands a new vision drawing us to find better definitions of what we see. This is how it has been with lysosomal diseases. 584 pp. Englisch.…

  • Lingua: Inglese

    Editore: Springer, Humana Nov 2010, 2010

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    Taschenbuch. Condizione: Neu. This item is printed on demand - Print on Demand Titel. Neuware -The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. Research of these disorders has moved from diseases with unknown etiology to disorders with clear and defined pathophysiology and some of them have benefited from the development of disease specific therapeutics. This book describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. This is an invaluable resource for researchers in biochemical and molecular genetics, enzyme therapy, and gene transfer.Springer-Verlag KG, Sachsenplatz 4-6, 1201 Wien 584 pp. Englisch.…

  • Lingua: Inglese

    Editore: Springer, 2010

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    Condizione: New. Print on Demand pp. 584 49:B&W 6.14 x 9.21 in or 234 x 156 mm (Royal 8vo) Perfect Bound on White w/Gloss Lam.

  • Lingua: Inglese

    Editore: Springer, 2010

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    Condizione: New. PRINT ON DEMAND pp. 584.