Alkaptonuria and Ochronosis

  • Jozef Rovenský
  • Tibor Urbánek
  • Boldišová Oľga
  • James A. Gallagher

Table of contents

  1. Front Matter
    Pages i-viii
  2. Jozef Rovenský
    Pages 1-1
  3. Zbyněk Hrnčíř
    Pages 3-3
  4. Jozef Rovenský, Mária Stančíková
    Pages 5-7
  5. Mária Stančíková, Jozef Rovenský
    Pages 9-12
  6. Jozef Rovenský, Mária Stančíková
    Pages 13-15
  7. Mária Stančíková, Jozef Rovenský
    Pages 17-18
  8. Vladimír Bošák
    Pages 19-27
  9. James A. Gallagher
    Pages 29-32
  10. Jozef Rovenský, Tibor Urbánek
    Pages 33-39
  11. Jozef Rovenský, Tibor Urbánek
    Pages 41-43
  12. Jozef Rovenský, Tibor Urbánek
    Pages 45-52
  13. Jozef Rovenský, Mária Krátka, Tibor Urbánek
    Pages 53-57
  14. Tibor Urbánek, Štefan Kopecký, Jozef Rovenský
    Pages 59-64
  15. Jozef Rovenský, Mária Krátka, Tibor Urbánek
    Pages 73-77
  16. Tibor Urbánek, Jozef Rovenský
    Pages 79-83
  17. Tibor Urbánek, Jozef Rovenský
    Pages 85-90
  18. Tibor Urbánek, Jozef Rovenský
    Pages 91-98
  19. Tibor Urbánek, Jozef Rovenský
    Pages 99-104

About this book

Introduction

This 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.

Keywords

arthropathy inherited disorders metabolism nitisinone ochronotic

Editors and affiliations

  • Jozef Rovenský
    • 1
  • Tibor Urbánek
    • 2
  • Boldišová Oľga
    • 3
  • James A. Gallagher
    • 4
  1. 1.National Institute of Rheumatic DiseasesPiešt'anySlovakia
  2. 2.National Institute of Rheumatic DiseasesPiešt'anySlovakia
  3. 3.Slovak SpaPiešťanySlovakia
  4. 4.Musculoskeletal Biology IIUniversity of Liverpool Institute of Aging and Chronic DiseaseLiverpoolUnited Kingdom

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-319-15108-3
  • Copyright Information Springer International Publishing Switzerland 2015
  • Publisher Name Springer, Cham
  • eBook Packages Medicine
  • Print ISBN 978-3-319-15107-6
  • Online ISBN 978-3-319-15108-3
  • About this book
Industry Sectors
Biotechnology
Pharma