Lysosomal Storage DisordersJohn A. Barranger, Mario Cabrera-Salazar Springer Science & Business Media, 16.10.2007 - 564 Seiten 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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Seite xii
... Clinical Features Therapeutic Goals in the Treatment of Gaucher Disease ..........................345 Neal Weinreb ... Clinical Genetic Diagnosis and Therapies ............415 John J. Hopwood Shunji Tomatsu, Adriana M. Montaño, Tatsuo ...
... Clinical Features Therapeutic Goals in the Treatment of Gaucher Disease ..........................345 Neal Weinreb ... Clinical Genetic Diagnosis and Therapies ............415 John J. Hopwood Shunji Tomatsu, Adriana M. Montaño, Tatsuo ...
Seite 28
... clinical symptoms, which tend to be multisystemic and progressive in dysfunction. The nature of the storage compartment in each LSD is likely to vary, but in most cases probably involves similar elements of the endosome–lysosome pathway ...
... clinical symptoms, which tend to be multisystemic and progressive in dysfunction. The nature of the storage compartment in each LSD is likely to vary, but in most cases probably involves similar elements of the endosome–lysosome pathway ...
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Inhalt
37 | |
45 | |
Angela Montecalvo | 68 |
AdenoAssociated ViralMediated Gene Therapy of Lysosomal | 97 |
Department of Surgery and Medicine Molecular Medicine Institute | 110 |
Gene Therapy of Lysosomal Storage Disorders | 133 |
Substrate Reduction Therapy 153 | 152 |
Newborn Screening for Lysosomal Storage Disorders 169 C Ronald Scott Frantisek Turecek | 169 |
The GM1 Gangliosidoses 217 Gustavo CharriaOrtiz | 257 |
Volkmar Gieselmann | 284 |
Robbins | 319 |
Lorne A Clarke | 389 |
Clinical Genetic Diagnosis and Therapies 415 John J Hopwood | 433 |
Clinical Genetic | 457 |
Acid Maltase Deficiency | 473 |
Glorioso III | 493 |
Mucopolysaccharidosis I 389 Lorne A Clarke | 171 |
Kim Mooney | 179 |
University of California San Francisco Stanford Lysosomal Disease Center | 197 |
Genetic Disease Science Genzyme Corporation Framingham MA 017019322 USA | 217 |
Salla | 499 |
Index 539 | 519 |
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Acad accumulation acid activity addition adult approach associated Biochem Biol blood bone marrow Brady brain cause clinical correction cytoplasmic defect deficiency delivery demonstrated diagnosis disorders early effects et al evaluation expression Fabry Figure function Gaucher disease gene therapy gene transfer Genet genome herpes simplex virus human important improvement increased individuals infantile infection involvement Krabbe disease leads levels liver long-term LSDs lysosomal storage manifestations mice molecular mouse model mucopolysaccharidosis mutations nervous system neural neurological neurons normal NSCs observed occurs patients phenotype Pompe disease present Proc production progressive promoter protein recombinant reduced region reported response retroviral Sandhoff screening severe showed specific stem cells storage disease storage disorders structure studies substrate syndrome Tay–Sachs testing Ther therapeutic tissue transcription transduction transgene transplantation treated treatment vectors viral Virol virus vivo
Beliebte Passagen
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