Connective Tissue and Its Heritable Disorders
Connective Tissue and Its Heritable Disorders
Molecular, Genetic and Medical Aspects
Steinmann, Beat; Royce, Peter M.
John Wiley and Sons Ltd
08/2002
1201
Dura
Inglês
9780471251859
0471251852
3998
Features reviews of clinical diagnosis, mode of inheritance, risk of recurrence, and prenatal diagnosis of each inherited connective tissue disorder; a description of the morphology of connective tissues; a section on the biology of the extracellular matrix; and the addition of syndromes such as craniosyntosis, and disorders of sulfate metabolism.
Preface (Peter M. Royce and Beat Steinmann). Acknowledgments. Preface to the First Edition (Peter M. Roye and Beat Steinmann). Contributors. Introduction: Research on Collagen in the Author s Labortory, 1952 1982 (Karl A. Piez). Heritable Disorders of Connective Tissue: A Personal Account of the Origins, Evolution, Validation, and Expansion of a Concept (Victor A. McKusick). BIOLOGY OF EXTRACELLULAR MATRIX. Morphology and Chemical Composition of Connective Tissue. Collagen. Elastin and the Microfibrillar Apparatus (Joel Rosenbloom and William R. Abrams). Glycoslated Matrix Proteins (Dick Heineg et al.). Adhesive Glycoproteins (Klaus von der Mark and Lydia Sorokin). Keratins (E. Birgitte Lane). Extracellular Matrix Degradation (Gillian Murphy and John J. Reynolds). HERITABLE DISORDERS OF CONNECTIVE TISSUE. Osteogenesis Imperfecta (Peter H. Byers and William G. Cole). The Ehlers Danlos Syndrome (Beat Steinmann, et al.). Cutis Laxa and Premature Aging Syndromes (Jeffrey M. Davidson and MariaGabriella Giro) . Pseudoxanthoma Elasticum (Kenneth H. Neldner and Berthold Struk). The Marfan Syndrome and Other Microfibrillar Disorders (Reed E. Pyeritz and Harry C. Dietz). The Homocystinurias (Flemming Skovby and Jan P. Kraus). Menkes Disease and the Occipital Horn Syndrome (Nina Horn and Zeynep Tumer). Epidermolysis Bullosa (Leena Bruckner Tuderman). Prolidase Deficiency (Peter M. Royce and Beat Steinmann). alpha1 Antitrypsin Deficiency (Diane Wilson Cox). Heritable Forms of Rickets and Osteomalacia (Michael P. Whyte). Osteopetrosis (Michael P. Whyte). Alkaptonuria (Bert N. La Du). Fibrodysplasia Ossificans Progressiva (Frederick S. Kaplan, et al.). Disorders of Lysosomal Enzymes. Skeletal Dysplasias. Disorders of Keratinization (Meral J. Arin, et al.). Alport Syndrome (Karl Tryggvason and Paula Martin). Miscellaneous Disorders. Appendix I: International Nomenclature of Constitutional Disorders of Bone: Osteochondrodysplasias. Appendix II: Extracellular Matrix Metabolites in Body Fluids (Leila Risteli and Juha Risteli). Index.
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Features reviews of clinical diagnosis, mode of inheritance, risk of recurrence, and prenatal diagnosis of each inherited connective tissue disorder; a description of the morphology of connective tissues; a section on the biology of the extracellular matrix; and the addition of syndromes such as craniosyntosis, and disorders of sulfate metabolism.
Preface (Peter M. Royce and Beat Steinmann). Acknowledgments. Preface to the First Edition (Peter M. Roye and Beat Steinmann). Contributors. Introduction: Research on Collagen in the Author s Labortory, 1952 1982 (Karl A. Piez). Heritable Disorders of Connective Tissue: A Personal Account of the Origins, Evolution, Validation, and Expansion of a Concept (Victor A. McKusick). BIOLOGY OF EXTRACELLULAR MATRIX. Morphology and Chemical Composition of Connective Tissue. Collagen. Elastin and the Microfibrillar Apparatus (Joel Rosenbloom and William R. Abrams). Glycoslated Matrix Proteins (Dick Heineg et al.). Adhesive Glycoproteins (Klaus von der Mark and Lydia Sorokin). Keratins (E. Birgitte Lane). Extracellular Matrix Degradation (Gillian Murphy and John J. Reynolds). HERITABLE DISORDERS OF CONNECTIVE TISSUE. Osteogenesis Imperfecta (Peter H. Byers and William G. Cole). The Ehlers Danlos Syndrome (Beat Steinmann, et al.). Cutis Laxa and Premature Aging Syndromes (Jeffrey M. Davidson and MariaGabriella Giro) . Pseudoxanthoma Elasticum (Kenneth H. Neldner and Berthold Struk). The Marfan Syndrome and Other Microfibrillar Disorders (Reed E. Pyeritz and Harry C. Dietz). The Homocystinurias (Flemming Skovby and Jan P. Kraus). Menkes Disease and the Occipital Horn Syndrome (Nina Horn and Zeynep Tumer). Epidermolysis Bullosa (Leena Bruckner Tuderman). Prolidase Deficiency (Peter M. Royce and Beat Steinmann). alpha1 Antitrypsin Deficiency (Diane Wilson Cox). Heritable Forms of Rickets and Osteomalacia (Michael P. Whyte). Osteopetrosis (Michael P. Whyte). Alkaptonuria (Bert N. La Du). Fibrodysplasia Ossificans Progressiva (Frederick S. Kaplan, et al.). Disorders of Lysosomal Enzymes. Skeletal Dysplasias. Disorders of Keratinization (Meral J. Arin, et al.). Alport Syndrome (Karl Tryggvason and Paula Martin). Miscellaneous Disorders. Appendix I: International Nomenclature of Constitutional Disorders of Bone: Osteochondrodysplasias. Appendix II: Extracellular Matrix Metabolites in Body Fluids (Leila Risteli and Juha Risteli). Index.
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