LEADER 05330nam 22007815 450 001 9910300226803321 005 20251116134134.0 010 $a3-319-15108-8 024 7 $a10.1007/978-3-319-15108-3 035 $a(CKB)3710000000379595 035 $a(EBL)3108696 035 $a(SSID)ssj0001465351 035 $a(PQKBManifestationID)11833320 035 $a(PQKBTitleCode)TC0001465351 035 $a(PQKBWorkID)11477814 035 $a(PQKB)10087071 035 $a(DE-He213)978-3-319-15108-3 035 $a(MiAaPQ)EBC3108696 035 $a(PPN)18488926X 035 $a(EXLCZ)993710000000379595 100 $a20150323d2015 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aAlkaptonuria and Ochronosis /$fedited by Jozef Rovenský, Tibor Urbánek, Boldi?ová O?ga, James A. Gallagher 205 $a1st ed. 2015. 210 1$aCham :$cSpringer International Publishing :$cImprint: Springer,$d2015. 215 $a1 online resource (152 p.) 300 $aDescription based upon print version of record. 311 08$a3-319-15107-X 320 $aIncludes bibliographical references and index. 327 $aIntroduction -- Alkaptonuria and Ochronosis -- History -- Metabolism of Aromatic Amino Acids -- Tyrosine Metabolism Disorders -- Detection of Homogentisic Acid in Plasma and Urine -- Alkaptonuria Genetics -- Experimental Alkaptonuria in Animals -- Experimental Models of Alkaptonuria and Ochronosis -- Ochronotic Arthropathy -- Clinical Manifestation of Ochronotic Arthropathy in the Spine -- Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in the Spine -- Clinical Manifestation of Ochronotic Arthropathy in the Peripheral Joints -- Clinical and Ultrasound Evaluation of Enthesopathy in Alkaptonuria in the Romani Community -- Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in the Area of the Peripheral Joints -- Manifestations of Alkaptonuric Ochronosis in the Eye -- Symptoms of Alkaptonuria and Ochronosis in the Ear -- Manifestations of Alkaptonuria and Ochronosis in the Visceral Organs -- Manifestations of Alkaptonuria and Ochronosis in the Respiratory Tract -- Pathological Anatomy and Histology of Ochronosis -- Cellular and Molecular Pathogenesis of Ochronosis -- Picture of Synovial Effusion in Ochronosis -- Coincidence of Alkaptonuric Ochronosis with Other Diseases -- Differential Diagnosis of the Disease -- Sine Syndromes in Alkaptonuria -- History of Nitisinone (NTBC) -- Case Reports -- References. 330 $aThis book comprehensively describes alkaptonuria and ochronosis. Beginning with the history, genetics, pathophysiology and diagnostics of the disease, the authors subsequently present a detailed characterization of its clinical manifestation in the spine, peripheral joints, eyes, ears, visceral organs and respiratory tract, its pathological anatomy and histology, as well as differential diagnosis. This is complemented by the latest data on therapy and experimental models of alkaptonuria, and supported by several case reports. Numerous pictures and radiological images document the clinical symptoms, giving the reader a solid understanding of the disease. On the basis of the editor?s and authors? own extensive observations, the book offers an analysis of protein metabolism and aromatic amino acids in the context of alkaptonuria. Written by international experts in the field, the book offers a valuable reference guide for healthcare professionals working in rheumatology, dermatology, pulmonology, otolaryngology and histopathology. 606 $aRheumatology 606 $aRespiratory organs?Diseases 606 $aPathology 606 $aOtolaryngology 606 $aDermatology 606 $aMolecular biology 606 $aRheumatology$3https://scigraph.springernature.com/ontologies/product-market-codes/H33170 606 $aPneumology/Respiratory System$3https://scigraph.springernature.com/ontologies/product-market-codes/H33134 606 $aPathology$3https://scigraph.springernature.com/ontologies/product-market-codes/H4800X 606 $aOtorhinolaryngology$3https://scigraph.springernature.com/ontologies/product-market-codes/H46007 606 $aDermatology$3https://scigraph.springernature.com/ontologies/product-market-codes/H1900X 606 $aMolecular Medicine$3https://scigraph.springernature.com/ontologies/product-market-codes/B1700X 615 0$aRheumatology. 615 0$aRespiratory organs?Diseases. 615 0$aPathology. 615 0$aOtolaryngology. 615 0$aDermatology. 615 0$aMolecular biology. 615 14$aRheumatology. 615 24$aPneumology/Respiratory System. 615 24$aPathology. 615 24$aOtorhinolaryngology. 615 24$aDermatology. 615 24$aMolecular Medicine. 676 $a610 702 $aRovensky?$b Jozef$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aUrbánek$b Tibor$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aO?ga$b Boldi?ová$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aGallagher$b James A.$4edt$4http://id.loc.gov/vocabulary/relators/edt 906 $aBOOK 912 $a9910300226803321 996 $aAlkaptonuria and Ochronosis$91759371 997 $aUNINA