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Title Alkaptonuria and ochronosis / Jozef Rovenský, Tibor Urbánek, Boldišová Olʹga, James A. Gallagher, editors
Published Cham : Springer, 2015


Description 1 online resource (viii, 156 pages) : illustrations (some color)
Contents Introduction -- Alkaptonuria and Ochronosis -- History -- Metabolism of Aromatic Amino Acids -- Tyrosine Metabolism Disorders -- Detection of Homogentisic Acid in Plasma and Urine -- Genetics of Alkaptonuria -- Experimental Alkaptonuria in Animals -- Clinical Manifestation of Alkaptonuria and Ochronosis -- Ochronotic Arthropathy -- Clinical Manifestation of Ochronotic Arthropathy in the Spine -- Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in Spine -- Clinical Manifestation of Ochronotic Arthropathy in Peripheral Joints -- Clinical and Ultrasound Evaluation of Enthesopathy in Alkaptonuria in Romani (Gypsy) Community -- Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in the Area of Peripheral Joints -- Manifestations of Alkaptonuric Ochronosis in the Eye -- Symptoms of Alkaptonuria and Ochronosis in the Ear -- Manifestations of Alkaptonuria and Ochronosis in Visceral Organs -- Manifestations of Alkaptonuria and Ochronosis in the Respiratory Tract -- Pathological Anatomy and Histology of Ochronosis -- Picture of Synovial Effusion in Ochronosis -- Rare Complications of Alkaptonuria : Haemolysis and Amyloidosis -- Coincidence of Alkaptonuric Ochronosis with Other Diseases -- Differential Diagnosis of the Disease -- Therapy of Alkaptonuria -- History of Nitisinone (NTBC) -- Case Reports
Summary 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
Notes "This title has been previously published in Slovak by Slovak Academic Press 2011."
Bibliography Includes bibliographical references and index
Notes English
Online resource; title from PDF title page (SpringerLink, viewed April 1, 2015)
Subject Amino acids -- Metabolism -- Disorders.
Genetic disorders.
Pigmentation disorders.
Pigmentation Disorders
Amino Acid Metabolism, Inborn Errors
Genetic Diseases, Inborn
Respiratory medicine.
Otorhinolaryngology (ENT)
Medical research.
HEALTH & FITNESS -- Diseases -- General.
MEDICAL -- Clinical Medicine.
MEDICAL -- Diseases.
MEDICAL -- Evidence-Based Medicine.
MEDICAL -- Internal Medicine.
Pigmentation disorders.
Amino acids -- Metabolism -- Disorders.
Genetic disorders.
Genre/Form Electronic books
Form Electronic book
Author Rovenský, Jozef, editor.
Urbánek, Tibor, 1923- editor.
Olʹga, Boldišová, editor.
Gallagher, James A., editor.
ISBN 9783319151083