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000726352 019__ $$a908048899
000726352 020__ $$a9783319151083$$qelectronic book
000726352 020__ $$a3319151088$$qelectronic book
000726352 020__ $$z9783319151076
000726352 0247_ $$a10.1007/978-3-319-15108-3$$2doi
000726352 035__ $$aSP(OCoLC)ocn905970609
000726352 035__ $$aSP(OCoLC)905970609$$z(OCoLC)908048899
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000726352 0411_ $$aeng$$hslo
000726352 049__ $$aISEA
000726352 050_4 $$aRC620.5
000726352 08204 $$a616.7$$223
000726352 24500 $$aAlkaptonuria and ochronosis$$h[electronic resource] /$$cJozef Rovenský, Tibor Urbánek, Boldišová Olʹga, James A. Gallagher, editors.
000726352 264_1 $$aCham :$$bSpringer,$$c2015.
000726352 300__ $$a1 online resource (viii, 156 pages) :$$billustrations (some color)
000726352 336__ $$atext$$btxt$$2rdacontent
000726352 337__ $$acomputer$$bc$$2rdamedia
000726352 338__ $$aonline resource$$bcr$$2rdacarrier
000726352 500__ $$a"This title has been previously published in Slovak by Slovak Academic Press 2011."
000726352 500__ $$aIncludes index.
000726352 504__ $$aIncludes bibliographical references and index.
000726352 5050_ $$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 Patholgenesis 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.
000726352 506__ $$aAccess limited to authorized users.
000726352 520__ $$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.
000726352 588__ $$aOnline resource; title from PDF title page (SpringerLink, viewed April 1, 2015).
000726352 650_0 $$aAmino acids$$xMetabolism$$xDisorders.
000726352 650_0 $$aGenetic disorders.
000726352 7001_ $$aRovenský, Jozef,$$eeditor.
000726352 7001_ $$aUrbánek, Tibor,$$eeditor.
000726352 7001_ $$aOlʹga, Boldišová,$$eeditor.
000726352 7001_ $$aGallagher, James A.$$eeditor.
000726352 77608 $$iPrint version:$$z9783319151076
000726352 852__ $$bebk
000726352 85640 $$3SpringerLink$$uhttps://univsouthin.idm.oclc.org/login?url=http://link.springer.com/10.1007/978-3-319-15108-3$$zOnline Access$$91397441.1
000726352 909CO $$ooai:library.usi.edu:726352$$pGLOBAL_SET
000726352 980__ $$aEBOOK
000726352 980__ $$aBIB
000726352 982__ $$aEbook
000726352 983__ $$aOnline
000726352 994__ $$a92$$bISE