By Jozef Rovenský, Tibor Urbánek, Boldišová Oľga, James A. Gallagher

ISBN-10: 331915107X

ISBN-13: 9783319151076

ISBN-10: 3319151088

ISBN-13: 9783319151083

This ebook comprehensively describes alkaptonuria and ochronosis. starting with the heritage, genetics, pathophysiology and diagnostics of the ailment, the authors as a result current an in depth characterization of its medical manifestation within the backbone, peripheral joints, eyes, ears, visceral organs and respiration tract, its pathological anatomy and histology, in addition to differential prognosis. this can be complemented by way of the most recent facts on remedy and experimental versions of alkaptonuria, and supported by way of numerous case stories. a number of photographs and radiological photographs record the scientific indicators, giving the reader a pretty good realizing of the sickness. at the foundation of the editor’s and authors’ personal wide observations, the ebook deals an research of protein metabolism and fragrant amino acids within the context of alkaptonuria. Written through foreign specialists within the box, the e-book deals a priceless reference advisor for healthcare pros operating in rheumatology, dermatology, pulmonology, otolaryngology and histopathology.

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Extra info for Alkaptonuria and Ochronosis

Sample text

Acta Chir. Orthop. Traumatol. Cech. 18, 243–265 (1951) Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in Spine 12 Jozef Rovenský, Mária Krátka, and Tibor Urbánek Content References 57 Skiagraphy still remains the principal method for the diagnostics of ochronotic arthropathy. Recognition of incipient secondary changes of joints due to deposition of ochronotic pigment improved with the advances in diagnostic technologies. Modern diagnostic imaging methods like CT and especially MRI enable identification of early specific signs of ochronosis, and thus they become important in the process of early determination of the diagnosis and in differential diagnostics of similar joint affections.

Res. : Cardiovascular ochronosis. Arch. Pathol. Lab. Med. : Alcaptonuria and ochronosis; with a report of three patients and metabolic studies in two. Am. J. Med. : Untersuchungen über Alkaptonurie. Z. Klin. Med. : Über Abnutzungsprodukte in Gelenken und ihre Resorption unter dem Bilde einer Synovitis detritica. Acta Chir. Scand. : Genuine und relative Alkaptonurie. Z. Klin. Med. : New developments in ochronosis: review of the literature. Rheumatol. Int. : Über einen Fall von ‘endogener Ochronose bei Alkaptonurie’ (in German) Frankfurt Z.

Three-generational alkaptonuria in a non-consanguineous family. J. Inherit. Metab. Dis. : Natural history of alkaptonuria. N. Engl. J. Med. : Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene. J. Med. Genet. : Alkaptonurie a ochronoza. In: Hrncir, Z. ) Klinická revmatologie, pp. 509–516. : Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with significant founder effect and high prevalence.

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Alkaptonuria and Ochronosis by Jozef Rovenský, Tibor Urbánek, Boldišová Oľga, James A. Gallagher


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