By Jozef Rovenský, Tibor Urbánek, Boldišová Oľga, James A. Gallagher
This publication comprehensively describes alkaptonuria and ochronosis. starting with the background, genetics, pathophysiology and diagnostics of the affliction, the authors consequently current a close characterization of its medical manifestation within the backbone, peripheral joints, eyes, ears, visceral organs and breathing tract, its pathological anatomy and histology, in addition to differential prognosis. this is often complemented by means of the most recent info on treatment and experimental types of alkaptonuria, and supported by means of a number of case stories. various images and radiological photographs rfile the medical signs, giving the reader a great figuring out of the sickness. at the foundation of the editor’s and authors’ personal wide observations, the booklet bargains an research of protein metabolism and fragrant amino acids within the context of alkaptonuria. Written by way of overseas specialists within the box, the e-book deals a worthwhile reference advisor for healthcare pros operating in rheumatology, dermatology, pulmonology, otolaryngology and histopathology.
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Hum. Genet. : Alelova heterogennost mutacii sposobujucich alkaptonuriu a mozne priciny vysokeho vyskytu tejto choroby na Slovensku. Lek. Obzor. : Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria. J. Med. Genet. 37, 539–542 (2000c) 8 Experimental Alkaptonuria in Animals James A. Gallagher Content References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 32 Throughout the history of research into alkaptonuria (AKU), there have been many attempts to develop animal models to study the disorder.
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. Ann. Hum. Genet. : Cloning of the homogentisate-1,2-dioxygenase, the key enzyme of alkaptonuria in mouse.
Sulcus dorsalis persistens is apparent in anteflexion 51 52 J. Rovenský and T. Urbánek Fig. 5 Spine in ochronotic arthropathy is rigid and irregular, and contours do not change on anteflexion Similarly, head movements are always limited in AS, often even in less advanced stages; in contrast we have only encountered with this phenomenon in two patients with ochronotic arthropathy who had severe articular changes, and in these cases, head mobility was not completely limited. General signs like higher ESR, weight loss, weakness or fever often accompany AS, but as it was mentioned before, they do not usually occur in ochronotic arthropathy.
Alkaptonuria and Ochronosis by Jozef Rovenský, Tibor Urbánek, Boldišová Oľga, James A. Gallagher