Connective tissue and it heritable disorders : molecular, genetic, and medical aspects / / edited by Peter M. Royce and Beat Steinmann

• Pubblicazione: New York, : Wiley-Liss, c2002
• Edizione: 2nd ed.
• Descrizione fisica: 1 online resource (1221 p.)
• Disciplina: 616.77042
• Soggetto topico: Connective tissues - Diseases - Genetic aspects; Connective tissues - Diseases - Molecular aspects
• Altri autori: RoycePeter M SteinmannBeat U
• Note generali: Description based upon print version of record.
• Nota di bibliografia: Includes bibliographical references and index.
• Nota di contenuto: CONNECTIVE TISSUE AND ITS HERITABLE DISORDERS SECOND EDITION; Contents; Preface; Acknowledgments; Preface to the First Edition; Contributors; Introduction Research on Collagen in the Author's Laboratory, 1952-1982; Introduction Heritable Disorders of Connective Tissue: A Personal Account of the Origins, Evolution, Validation, and Expansion of a Concept; BIOLOGY OF EXTRACELLULAR MATRIX; Chapter 1 Morphology and Chemical Composition of Connective Tissue; Part I Structure of the Skin and Tendon; Part II Cartilage; Part III Bone; Part IV The Cardiovascular System; Part V The Eye ; Chapter 2 CollagenPart I The Collagen Family: Structure, Assembly, and Organization in the Extracellular Matrix; Part II Gene Structure; Chapter 3 Elastin and the Microfibrillar Apparatus; Chapter 4 Glycosylated Matrix Proteins; Chapter 5 Adhesive Glycoproteins; Chapter 6 Keratins; Chapter 7 Extracellular Matrix Degradation; HERITABLE DISORDERS OF CONNECTIVE TISSUE; Chapter 8 Osteogenesis Imperfecta; Chapter 9 The Ehlers-Danlos Syndrome; Chapter 10 Cutis Laxa and Premature Aging Syndromes; Chapter 11 Pseudoxanthoma Elasticum; Chapter 12 The Marfan Syndrome and Other Microfibrillar Disorders ; Chapter 13 The HomocystinuriasChapter 14 Menkes Disease and the Occipital Horn Syndrome; Chapter 15 Epidermolysis Bullosa; Chapter 16 Prolidase Deficiency; Chapter 17 a(1)-Antitrypsin Deficiency; Chapter 18 Heritable Forms of Rickets and Osteomalacia; Chapter 19 Osteopetrosis; Chapter 20 Alkaptonuria; Chapter 21 Fibrodysplasia Ossificans Progressiva; Chapter 22 Disorders of Lysosomal Enzymes; Part I General Considerations; Part II Clinical Phenotypes; Chapter 23 Skeletal Dysplasias; Part I Chondrodysplasias: General Concepts and Diagnostic and Management Considerations ; Part II Chondrodysplasias: Disorders of Cartilage Matrix ProteinsPart III Skeletal Dysplasias Related to Defects in Sulfate Metabolism; Part IV Craniosynostosis Syndromes and Skeletal Dysplasias Caused by Mutations in Fibroblast Growth Factor Receptor Genes; Part V Defects in Skeletal Morphogenesis; Chapter 24 Disorders of Keratinization; Chapter 25 Alport Syndrome; Chapter 26 Miscellaneous Disorders; Part I Corneal Dystrophies Due to Mutations in the Kerato-Epithelin Gene (big-h3); Part II Progressive Pseudorheumatoid Dysplasia ; Part III The Camptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromePart IV Bruck Syndrome; Part V Osteoporosis-Pseudoglioma Syndrome; Part VI Myopathies Due to Defects in Collagen VI; Part VII Knobloch Syndrome; Appendix I International Nomenclature of Constitutional Disorders of Bone: Osteochondrodysplasias; Appendix II Extracellular Collagen Metabolites in Body Fluids; Index
• Sommario/riassunto: The Second Edition of Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects is the definitive reference text in its field, with over 40% more pages on the nature, diagnosis, and treatment of disease than its predecessor. Collecting new research on disorders detailed in the first edition as well as on those previously excluded, editors Peter Royce and Beat Steinmann provide the most up-to-date clinical and scientific information for medical specialists treating affected individuals. Features of this revised and updated volume include detailed reviews of the cl
• Titolo autorizzato: Connective tissue and it heritable disorders
• ISBN: 1-280-36667-2; 9786610366675; 0-470-35006-7; 0-471-46117-2; 0-471-22192-9
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Lingua di pubblicazione: Inglese
• Record Nr.: 9910877798703321
• Lo trovi qui: Univ. Federico II