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140203 ||| eng |
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|a 9789400778931
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| 100 |
1 |
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|a Halper, Jaroslava
|e [editor]
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| 245 |
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|a Progress in Heritable Soft Connective Tissue Diseases
|h Elektronische Ressource
|c edited by Jaroslava Halper
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| 250 |
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|a 1st ed. 2014
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| 260 |
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|a Dordrecht
|b Springer Netherlands
|c 2014, 2014
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| 300 |
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|a VIII, 245 p. 35 illus., 31 illus. in color
|b online resource
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| 505 |
0 |
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|a Structure, physiology and biochemistry of collagens -- Basic components of connective tissues and extracellular matrix -- Proteoglycans and diseases of soft tissues -- Advances in the use of growth factors for treatment of disorders of soft tissues -- Clinical, diagnostic, and therapeutic aspects of the Marfan syndrome -- Loeys-Dietz syndrome -- Connective Tissue Disorders and Cardiovascular Complications: The indomitable role of Transforming Growth Factor-beta signaling -- The Ehlers-Danlos Syndrome -- Ehlers–Danlos syndrome associated with glycosaminoglycan abnormalities -- Cutis laxa -- Collagen type VI myopathies -- Mouse Models in Tendon and Ligament Research -- Connective tissue disorders in domestic animals
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| 653 |
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|a Cell Biology
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| 653 |
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|a Medical Genetics
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| 653 |
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|a Internal medicine
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| 653 |
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|a Cytology
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| 653 |
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|a Medical genetics
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| 653 |
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|a Internal Medicine
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| 041 |
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7 |
|a eng
|2 ISO 639-2
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| 989 |
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|b Springer
|a Springer eBooks 2005-
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| 490 |
0 |
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|a Advances in Experimental Medicine and Biology
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| 028 |
5 |
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|a 10.1007/978-94-007-7893-1
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| 856 |
4 |
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|u https://doi.org/10.1007/978-94-007-7893-1?nosfx=y
|x Verlag
|3 Volltext
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| 082 |
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|a 616,042
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| 520 |
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|a This volume is a reference handbook focusing on diseases like Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome and other heritable soft connective tissue diseases. The book presents detailed information for both basic scientists and for clinicians seeing patients. It is also a stepping stone for new investigations and studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment of them. Progress in Heritable Soft Connective Tissue Diseases features very prominent physicians and scientists as contributors who bring their most recent discoveries to the benefit of readers. Their expertise will help clinicians with proper diagnosis of sometimes elusive and uncommon heritable diseases of soft connective tissues. This book also offers an update on the pathophysiology of these diseases, including an emphasis on unifying aspects such as connections between embryonic development of the different types of connective tissues and systems, and the role of TGF-beta in development and physiology of soft tissues. This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder
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