Alkaptonuria and Ochronosis

Alkaptonuria and Ochronosis

Rovensky, Jozef; Olga, Boldisova; Urbanek, Tibor; Gallagher, James A.

Springer International Publishing AG

04/2015

156

Dura

Inglês

9783319151076

15 a 20 dias

4028

Descrição não disponível.
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.
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arthropathy;inherited disorders;metabolism;nitisinone;ochronotic