Alkaptonuria and Ochronosis

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 orga...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
Άλλοι συγγραφείς: Rovenský, Jozef (Επιμελητής έκδοσης), Urbánek, Tibor (Επιμελητής έκδοσης), Oľga, Boldišová (Επιμελητής έκδοσης), Gallagher, James A. (Επιμελητής έκδοσης)
Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
Γλώσσα:English
Έκδοση: Cham : Springer International Publishing : Imprint: Springer, 2015.
Θέματα:
Διαθέσιμο Online:Full Text via HEAL-Link
Πίνακας περιεχομένων:
  • Introduction
  • 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.