LEADER 05176nam 2200625Ia 450 001 9910676612303321 005 20230607214140.0 010 $a1-280-36667-2 010 $a9786610366675 010 $a0-470-35006-7 010 $a0-471-46117-2 010 $a0-471-22192-9 035 $a(CKB)111087027116200 035 $a(EBL)162756 035 $a(SSID)ssj0000128855 035 $a(PQKBManifestationID)11936972 035 $a(PQKBTitleCode)TC0000128855 035 $a(PQKBWorkID)10070992 035 $a(PQKB)10460714 035 $a(MiAaPQ)EBC162756 035 $a(OCoLC)53847663 035 $a(EXLCZ)99111087027116200 100 $a20010608d2002 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $2rdacontent 182 $2rdamedia 183 $2rdacarrier 200 00$aConnective tissue and it heritable disorders$b[electronic resource] $emolecular, genetic, and medical aspects /$fedited by Peter M. Royce and Beat Steinmann 205 $a2nd ed. 210 $aNew York $cWiley-Liss$dc2002 215 $a1 online resource (1221 p.) 300 $aDescription based upon print version of record. 311 $a0-471-25185-2 320 $aIncludes bibliographical references and index. 327 $aCONNECTIVE 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 327 $aChapter 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 327 $aChapter 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 327 $aPart 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 327 $aPart 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 330 $aThe 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 606 $aConnective tissues$xDiseases$xGenetic aspects 606 $aConnective tissues$xDiseases$xMolecular aspects 615 0$aConnective tissues$xDiseases$xGenetic aspects. 615 0$aConnective tissues$xDiseases$xMolecular aspects. 676 $a616.77042 701 $aRoyce$b Peter M$01341774 701 $aSteinmann$b Beat U$01341775 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910676612303321 996 $aConnective tissue and it heritable disorders$93064557 997 $aUNINA